#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
ITPR2	3709	broad.mit.edu	37	12	26784902	26784902	+	Missense_Mutation	SNP	G	G	A	rs377598368		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:26784902G>A	ENST00000381340.3	-	22	3247	c.2831C>T	c.(2830-2832)cCg>cTg	p.P944L	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	944					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGCACATCCGGCACGCTCAT	0.542																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2830-2832)cCg>cTg		inositol 1,4,5-trisphosphate receptor, type 2		G	LEU/PRO	0,4162		0,0,2081	139.0	145.0	143.0		2831	5.1	0.9	12		143	1,8435		0,1,4217	no	missense	ITPR2	NM_002223.2	98	0,1,6298	AA,AG,GG		0.0119,0.0,0.0079	benign	944/2702	26784902	1,12597	2081	4218	6299	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26784902G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2831C>T	12.37:g.26784902G>A	ENSP00000370744:p.Pro944Leu					RP11-666F17.1_ENST00000414098.2_RNA	p.P944L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			22	3247	-	Colorectal(261;0.0847)		944					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2831C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340888	0.60963	0.0	1.19E-4	ENSG00000123104	ENST00000381340	D	0.91464	-2.85	5.07	5.07	0.68467	.	0.345923	0.35013	N	0.003507	D	0.87533	0.6201	L	0.43923	1.385	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.82460	-0.0446	10	0.30078	T	0.28	.	18.6355	0.91376	0.0:0.0:1.0:0.0	.	944	Q14571	ITPR2_HUMAN	L	944	ENSP00000370744:P944L	ENSP00000370744:P944L	P	-	2	0	ITPR2	26676169	1.000000	0.71417	0.866000	0.34008	0.763000	0.43281	6.913000	0.75759	2.648000	0.89879	0.655000	0.94253	CCG		0.542	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		23	225	0	0	0	1	0	23	225				
PDILT	204474	broad.mit.edu	37	16	20370764	20370764	+	Silent	SNP	G	G	A	rs374255958		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:20370764G>A	ENST00000302451.4	-	12	1880	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	544					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.Y544Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512																																						ENST00000302451.4																			1	Substitution - coding silent(1)	p.Y544Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1630-1632)taC>taT		protein disulfide isomerase-like, testis expressed							230.0	205.0	213.0					16																	20370764		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370764G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1632C>T	16.37:g.20370764G>A							p.Y544Y	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1880	-			544					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1632C>T	CCDS10584.1																																																																																				0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		109	199	0	0	0	1	0	109	199				
TTN	7273	broad.mit.edu	37	2	179542480	179542480	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:179542480C>T	ENST00000591111.1	-	144	33432	c.33208G>A	c.(33208-33210)Gaa>Aaa	p.E11070K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11387K|TTN_ENST00000342992.6_Missense_Mutation_p.E10143K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	10205	Glu-rich.|Pro-rich.				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)			TCCTCTTCTTCAGGTAGAACT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34159-34161)Gaa>Aaa		titin							121.0	121.0	121.0					2																	179542480		1855	4080	5935	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542480C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33208G>A	2.37:g.179542480C>T	ENSP00000465570:p.Glu11070Lys					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11070K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10143K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA	p.E11387K	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)		146	34383	-			11070			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.34159G>A		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474552	0.43942	.	.	ENSG00000155657	ENST00000342992	T	0.62364	0.03	5.36	5.36	0.76844	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	B	0.24483	0.104	B	0.19148	0.024	T	0.55068	-0.8198	8	0.87932	D	0	.	11.2377	0.48951	0.1411:0.7225:0.1364:0.0	.	11070	Q8WZ42	TITIN_HUMAN	K	10143	ENSP00000343764:E10143K	ENSP00000343764:E10143K	E	-	1	0	TTN	179250725	0.059000	0.20769	0.997000	0.53966	0.559000	0.35586	1.271000	0.33098	2.639000	0.89480	0.655000	0.94253	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	190	0	0	0	1	0	26	190				
ZNF804A	91752	broad.mit.edu	37	2	185802016	185802016	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:185802016G>A	ENST00000302277.6	+	4	2487	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	631							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAATGCTGGGAAATATCTAT	0.353																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1891-1893)ggG>ggA		zinc finger protein 804A							96.0	106.0	103.0					2																	185802016		2203	4297	6500	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185802016G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1893G>A	2.37:g.185802016G>A							p.G631G	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2487	+			631					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1893G>A	CCDS2291.1																																																																																				0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		99	158	0	0	0	1	0	99	158				
FOXJ1	2302	broad.mit.edu	37	17	74136150	74136150	+	Silent	SNP	G	G	A	rs145296122	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:74136150G>A	ENST00000322957.6	-	2	681	c.327C>T	c.(325-327)ccC>ccT	p.P109P	RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	109					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACGTCGTCGGGGGGTGGGG	0.706																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(325-327)ccC>ccT		forkhead box J1							38.0	32.0	34.0					17																	74136150		2202	4300	6502	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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	g.chr17:74136150G>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.327C>T	17.37:g.74136150G>A							p.P109P	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	681	-			109					O00630	Silent	SNP	ENST00000322957.6	37	c.327C>T	CCDS32739.1																																																																																				0.706	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		7	46	0	0	0	1	0	7	46				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			4	148	0	0	0	1	0	4	148				
SATB2	23314	broad.mit.edu	37	2	200137015	200137015	+	Silent	SNP	G	G	A	rs141424911	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:200137015G>A	ENST00000417098.1	-	11	2937	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000443023.1_Silent_p.S648S|SATB2_ENST00000428695.1_Silent_p.S589S|SATB2_ENST00000457245.1_Silent_p.S707S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	707					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATCTCCTCGGAGCCTTCCT	0.537													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0				Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1942-1944)tcC>tcT		SATB homeobox 2		G	,,	7,4399	14.3+/-33.2	0,7,2196	124.0	116.0	119.0		2121,2121,2121	-11.3	0.6	2	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SATB2	NM_001172509.1,NM_001172517.1,NM_015265.3	,,	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	,,	707/734,707/734,707/734	200137015	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137015G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2121C>T	2.37:g.200137015G>A						SATB2_ENST00000417098.1_Silent_p.S707S|SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000457245.1_Silent_p.S707S|SATB2_ENST00000428695.1_Silent_p.S589S	p.S648S			Q9UPW6	SATB2_HUMAN			10	3409	-			707					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1944C>T	CCDS2327.1																																																																																				0.537	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		56	97	0	0	0	1	0	56	97				
MMP23B	8510	broad.mit.edu	37	1	1572077	1572077	+	IGR	SNP	C	C	A	rs1059815		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:1572077C>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000407249.3_Missense_Mutation_p.K631N|CDK11B_ENST00000341832.6_Missense_Mutation_p.K584N|CDK11B_ENST00000340677.5_Missense_Mutation_p.K618N|CDK11B_ENST00000317673.7_Missense_Mutation_p.K629N			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CGATTTCTGACTTCCCGGGGA	0.587																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1891-1893)aaG>aaT		cyclin-dependent kinase 11B		C	ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS	0,4108		0,0,2054	91.0	97.0	95.0		1629,1116,1518,1527,1647,1620	1.5	1.0	1	dbSNP_86	95	1,8393		0,1,4196	no	missense,missense,missense,missense,missense,missense	CDK11B	NM_033486.1,NM_033487.1,NM_033488.1,NM_033489.1,NM_033492.1,NM_033493.1	94,94,94,94,94,94	0,1,6250	AA,AC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	543/698,372/527,506/661,509/664,549/704,540/695	1572077	1,12501	2054	4197	6251	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572077C>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572077C>A						CDK11B_ENST00000317673.7_Missense_Mutation_p.K629N|CDK11B_ENST00000340677.5_Missense_Mutation_p.K618N|CDK11B_ENST00000341832.6_Missense_Mutation_p.K584N	p.K631N			P21127	CD11B_HUMAN			18	1892	-			641			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1893G>T	CCDS30559.1																																																																																				0.587	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		18	50	1	0	2.37509e-13	1	2.54474e-13	18	50				
KRT80	144501	broad.mit.edu	37	12	52567511	52567511	+	Missense_Mutation	SNP	G	G	A	rs200315755		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:52567511G>A	ENST00000394815.2	-	5	801	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KRT80_ENST00000313234.5_Missense_Mutation_p.S235L	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	235	Linker 12.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GACGGTCACCGACACATCCTT	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17722	0.0		0.0	False		,,,				2504	0.0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(703-705)tCg>tTg		keratin 80							72.0	56.0	62.0					12																	52567511		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567511G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.704C>T	12.37:g.52567511G>A	ENSP00000378292:p.Ser235Leu					KRT80_ENST00000394815.2_Missense_Mutation_p.S235L	p.S235L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	801	-			235			Linker 12.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.704C>T	CCDS8821.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.27	3.076409	0.55753	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89270	-2.49;-2.49	4.14	4.14	0.48551	Filament (1);	0.000000	0.32273	N	0.006331	D	0.95143	0.8426	M	0.90542	3.125	0.39436	D	0.967165	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.69307	0.896;0.937;0.963	D	0.96776	0.9572	10	0.87932	D	0	.	16.9798	0.86324	0.0:0.0:1.0:0.0	.	235;235;270	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	L	235	ENSP00000369361:S235L;ENSP00000378292:S235L	ENSP00000369361:S235L	S	-	2	0	KRT80	50853778	1.000000	0.71417	0.992000	0.48379	0.211000	0.24417	4.536000	0.60636	2.328000	0.79073	0.491000	0.48974	TCG		0.667	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		21	76	0	0	0	1	0	21	76				
UGT2A3	79799	broad.mit.edu	37	4	69795745	69795745	+	Missense_Mutation	SNP	C	C	T	rs575556264	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795745C>T	ENST00000251566.4	-	6	1400	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R168Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAGACTGCTCGATCTAGGGG	0.448													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16674	0.0		0.001	False		,,,				2504	0.0					ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1369-1371)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide A3							96.0	99.0	98.0					4																	69795745		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795745C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1370G>A	4.37:g.69795745C>T	ENSP00000251566:p.Arg457Gln					UGT2A3_ENST00000420231.2_Missense_Mutation_p.R168Q	p.R457Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1400	-			457					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1370G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201498	0.09652	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.62788	0.0;0.03	2.22	2.22	0.28083	.	0.243922	0.36374	N	0.002635	T	0.50069	0.1594	L	0.58669	1.825	0.09310	N	0.999999	P	0.35481	0.504	B	0.33196	0.159	T	0.35847	-0.9772	10	0.30854	T	0.27	.	6.0981	0.20031	0.3031:0.6969:0.0:0.0	.	457	Q6UWM9	UD2A3_HUMAN	Q	457;168	ENSP00000251566:R457Q;ENSP00000440115:R168Q	ENSP00000251566:R457Q	R	-	2	0	UGT2A3	69830334	0.000000	0.05858	0.947000	0.38551	0.117000	0.20001	0.042000	0.13949	1.248000	0.43934	0.491000	0.48974	CGA		0.448	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		6	218	0	0	0	1	0	6	218				
ABCA13	154664	broad.mit.edu	37	7	48391978	48391978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:48391978C>T	ENST00000435803.1	+	31	10606	c.10582C>T	c.(10582-10584)Caa>Taa	p.Q3528*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3528					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCCCCACTGCAAGACATGAT	0.522																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10582-10584)Caa>Taa		ATP-binding cassette, sub-family A (ABC1), member 13							39.0	40.0	39.0					7																	48391978		1935	4146	6081	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48391978C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10582C>T	7.37:g.48391978C>T	ENSP00000411096:p.Gln3528*						p.Q3528*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			31	10606	+			3528					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.10582C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	52	19.333546	0.99918	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.78	4.78	0.61160	.	0.000000	0.43579	D	0.000542	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9727	0.71246	0.0:1.0:0.0:0.0	.	.	.	.	X	3528	.	ENSP00000411096:Q3528X	Q	+	1	0	ABCA13	48362524	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	5.511000	0.67024	2.194000	0.70268	0.462000	0.41574	CAA		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	47	0	0	0	1	0	13	47				
PLXNA4	91584	broad.mit.edu	37	7	132192882	132192882	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:132192882C>G	ENST00000359827.3	-	2	1533	c.571G>C	c.(571-573)Ggg>Cgg	p.G191R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G191R|PLXNA4_ENST00000378539.5_Missense_Mutation_p.G191R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G191R			Q9HCM2	PLXA4_HUMAN	plexin A4	191	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCTTCCCATCCACTGCC	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(571-573)Ggg>Cgg		plexin A4							124.0	117.0	119.0					7																	132192882		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192882C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.571G>C	7.37:g.132192882C>G	ENSP00000352882:p.Gly191Arg					PLXNA4_ENST00000321063.4_Missense_Mutation_p.G191R|PLXNA4_ENST00000378539.5_Missense_Mutation_p.G191R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G191R	p.G191R			Q9HCM2	PLXA4_HUMAN			2	1533	-			191			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.571G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609388	0.66558	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.31638	0.0803	M	0.88450	2.955	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.994	P;D;P	0.66497	0.857;0.944;0.868	T	0.17379	-1.0371	10	0.66056	D	0.02	.	19.2306	0.93839	0.0:1.0:0.0:0.0	.	191;191;191	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	R	191	ENSP00000323194:G191R;ENSP00000352882:G191R;ENSP00000392772:G191R;ENSP00000367800:G191R	ENSP00000323194:G191R	G	-	1	0	PLXNA4	131843422	1.000000	0.71417	0.302000	0.25058	0.499000	0.33736	7.818000	0.86416	2.561000	0.86390	0.462000	0.41574	GGG		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	104	0	0	0	1	0	9	104				
IFNW1	3467	broad.mit.edu	37	9	21141434	21141434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21141434T>A	ENST00000380229.2	-	1	710	c.136A>T	c.(136-138)Aga>Tga	p.R46*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	46					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGGAGATTCTCCTCATTTGG	0.517																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(136-138)Aga>Tga		interferon, omega 1							135.0	134.0	134.0					9																	21141434		2203	4300	6503	SO:0001587	stop_gained	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141434T>A		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.136A>T	9.37:g.21141434T>A	ENSP00000369578:p.Arg46*						p.R46*	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	710	-			46					Q13168|Q5U802|Q5VWD0|Q7M4P5	Nonsense_Mutation	SNP	ENST00000380229.2	37	c.136A>T	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	-	42	9.277090	0.99122	.	.	ENSG00000177047	ENST00000380229	.	.	.	4.54	4.54	0.55810	.	0.630817	0.16857	N	0.196673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4271	0.27105	0.1932:0.0:0.0:0.8068	.	.	.	.	X	46	.	ENSP00000369578:R46X	R	-	1	2	IFNW1	21131434	0.001000	0.12720	0.092000	0.20876	0.770000	0.43624	0.884000	0.28214	1.894000	0.54839	0.383000	0.25322	AGA		0.517	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		106	112	0	0	0	1	0	106	112				
SSR2	6746	broad.mit.edu	37	1	155989934	155989934	+	Silent	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:155989934A>G	ENST00000295702.4	-	2	96	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	SSR2_ENST00000529008.1_Silent_p.L9L|SSR2_ENST00000496742.1_Silent_p.L9L|SSR2_ENST00000480567.1_Silent_p.L9L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	9					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATAGAGCCAACACCACAAAT	0.478																																						ENST00000295702.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10						c.(25-27)Ttg>Ctg		signal sequence receptor, beta (translocon-associated protein beta)							96.0	87.0	90.0					1																	155989934		2203	4300	6503	SO:0001819	synonymous_variant	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989934A>G	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.25T>C	1.37:g.155989934A>G						SSR2_ENST00000480567.1_Silent_p.L9L|SSR2_ENST00000496742.1_Silent_p.L9L|SSR2_ENST00000529008.1_Silent_p.L9L	p.L9L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN			2	96	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		9					B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	c.25T>C	CCDS1126.1																																																																																				0.478	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		24	39	0	0	0	1	0	24	39				
POM121L12	285877	broad.mit.edu	37	7	53103481	53103481	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53103481G>A	ENST00000408890.4	+	1	133	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	39										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGCACGCCCCAGACCA	0.687																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(115-117)acG>acA		POM121 transmembrane nucleoporin-like 12							23.0	29.0	27.0					7																	53103481		2039	4185	6224	SO:0001819	synonymous_variant	285877							g.chr7:53103481G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.117G>A	7.37:g.53103481G>A							p.T39T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	133	+			39					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.117G>A	CCDS43584.1																																																																																				0.687	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		15	55	0	0	0	1	0	15	55				
C8A	731	broad.mit.edu	37	1	57333292	57333292	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:57333292C>T	ENST00000361249.3	+	2	184	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	30					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAGTAAGACGGGCAGCTAC	0.453																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(88-90)Cgg>Tgg		complement component 8, alpha polypeptide							65.0	60.0	62.0					1																	57333292		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333292C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.88C>T	1.37:g.57333292C>T	ENSP00000354458:p.Arg30Trp						p.R30W	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			2	184	+			30					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.88C>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795722	0.50208	.	.	ENSG00000157131	ENST00000361249	T	0.77229	-1.08	5.09	5.09	0.68999	.	15.106700	0.00166	N	0.000006	D	0.89431	0.6713	M	0.72894	2.215	0.31941	N	0.610898	D	0.89917	1.0	D	0.87578	0.998	T	0.75028	-0.3462	10	0.66056	D	0.02	-10.742	13.8682	0.63600	0.0:1.0:0.0:0.0	.	30	P07357	CO8A_HUMAN	W	30	ENSP00000354458:R30W	ENSP00000354458:R30W	R	+	1	2	C8A	57105880	0.850000	0.29656	0.901000	0.35422	0.166000	0.22503	1.767000	0.38501	2.644000	0.89710	0.563000	0.77884	CGG		0.453	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		4	100	0	0	0	1	0	4	100				
THNSL1	79896	broad.mit.edu	37	10	25312444	25312444	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:25312444A>G	ENST00000524413.1	+	3	639	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	THNSL1_ENST00000376356.4_Missense_Mutation_p.S98G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	98						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	CTGGAATATGAGTGTGTCTGA	0.383																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(292-294)Agt>Ggt		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						112.0	112.0	112.0					10																	25312444		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312444A>G	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.292A>G	10.37:g.25312444A>G	ENSP00000434887:p.Ser98Gly					THNSL1_ENST00000376356.4_Missense_Mutation_p.S98G	p.S98G			Q8IYQ7	THNS1_HUMAN			3	639	+			98					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.292A>G	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940438	0.34283	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.52754	0.65;0.65	5.69	5.69	0.88448	.	0.217036	0.48286	D	0.000187	T	0.54351	0.1853	M	0.84511	2.7	0.46241	D	0.998948	P	0.43231	0.801	B	0.37780	0.258	T	0.65425	-0.6171	10	0.72032	D	0.01	-14.7752	15.9507	0.79835	1.0:0.0:0.0:0.0	.	98	Q8IYQ7	THNS1_HUMAN	G	98	ENSP00000434887:S98G;ENSP00000365534:S98G	ENSP00000365534:S98G	S	+	1	0	THNSL1	25352450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.371000	0.59523	2.169000	0.68431	0.528000	0.53228	AGT		0.383	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		4	117	0	0	0	1	0	4	117				
FAM98A	25940	broad.mit.edu	37	2	33810288	33810288	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:33810288C>A	ENST00000238823.8	-	8	1252	c.1112G>T	c.(1111-1113)cGa>cTa	p.R371L	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.R176L|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	372	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TCCTCCCCCTCGGCCACCATG	0.562																																						ENST00000238823.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(1111-1113)cGa>cTa		family with sequence similarity 98, member A							202.0	165.0	178.0					2																	33810288		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33810288C>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1112G>T	2.37:g.33810288C>A	ENSP00000238823:p.Arg371Leu					FAM98A_ENST00000441530.2_Missense_Mutation_p.R176L|FAM98A_ENST00000403368.1_3'UTR	p.R371L			Q8NCA5	FA98A_HUMAN			8	1252	-	all_hematologic(175;0.115)		372			Gly-rich.		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.1112G>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527598	0.44969	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.82433	0.75;-1.61	5.41	4.54	0.55810	.	0.358804	0.25711	N	0.028811	T	0.63908	0.2551	N	0.08118	0	0.53005	D	0.999961	B;B;B;B	0.30914	0.199;0.199;0.3;0.199	B;B;B;B	0.20577	0.022;0.022;0.03;0.022	T	0.61237	-0.7103	10	0.13108	T	0.6	-7.2579	13.9711	0.64240	0.0:0.927:0.0:0.073	.	372;202;371;209	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	L	371;372;176	ENSP00000238823:R371L;ENSP00000408716:R176L	ENSP00000238823:R371L	R	-	2	0	FAM98A	33663792	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.599000	0.67592	1.291000	0.44653	0.491000	0.48974	CGA		0.562	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		38	95	1	0	1.57019e-19	1	1.72338e-19	38	95				
PCDHA7	56141	broad.mit.edu	37	5	140216232	140216232	+	Missense_Mutation	SNP	G	G	A	rs368032433		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:140216232G>A	ENST00000525929.1	+	1	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	755					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R755Q(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			2	Substitution - Missense(2)	p.R755Q(2)	lung(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2263-2265)cGg>cAg									49.0	49.0	49.0					5																	140216232		2203	4300	6503	SO:0001583	missense	56141							g.chr5:140216232G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2264G>A	5.37:g.140216232G>A	ENSP00000436426:p.Arg755Gln					PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.R755Q	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2264	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2264G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128708	0.21041	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.14022	2.54;2.54	3.66	1.86	0.25419	.	0.000000	0.29239	U	0.012740	T	0.09642	0.0237	L	0.38175	1.15	0.09310	N	1	B;B	0.23377	0.084;0.029	B;B	0.18561	0.022;0.01	T	0.24621	-1.0155	10	0.37606	T	0.19	.	7.1926	0.25834	0.2807:0.0:0.7193:0.0	.	755;755	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	Q	755	ENSP00000436426:R755Q;ENSP00000367365:R755Q	ENSP00000367365:R755Q	R	+	2	0	PCDHA7	140196416	0.005000	0.15991	0.318000	0.25279	0.714000	0.41099	1.063000	0.30567	0.339000	0.23719	0.455000	0.32223	CGG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		22	47	0	0	0	1	0	22	47				
KAT6A	7994	broad.mit.edu	37	8	41791962	41791962	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr8:41791962T>C	ENST00000396930.3	-	18	4319	c.3776A>G	c.(3775-3777)aAt>aGt	p.N1259S	KAT6A_ENST00000265713.2_Missense_Mutation_p.N1259S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1259S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1259					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTCAGGACTATTGCTGCTGTC	0.582																																						ENST00000396930.3																			0											c.(3775-3777)aAt>aGt		K(lysine) acetyltransferase 6A							67.0	50.0	56.0					8																	41791962		2202	4300	6502	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791962T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3776A>G	8.37:g.41791962T>C	ENSP00000380136:p.Asn1259Ser					KAT6A_ENST00000265713.2_Missense_Mutation_p.N1259S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1259S	p.N1259S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4319	-			1259					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3776A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	6.814	0.519270	0.13005	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.58652	0.32;0.32;0.32	5.17	4.03	0.46877	.	0.265142	0.36591	N	0.002501	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28681	-1.0036	10	0.02654	T	1	-10.018	5.4399	0.16501	0.0:0.1968:0.0:0.8032	.	1259	Q92794	KAT6A_HUMAN	S	1259	ENSP00000265713:N1259S;ENSP00000385888:N1259S;ENSP00000380136:N1259S	ENSP00000265713:N1259S	N	-	2	0	KAT6A	41911119	0.088000	0.21588	0.994000	0.49952	0.384000	0.30261	0.499000	0.22546	1.923000	0.55706	0.533000	0.62120	AAT		0.582	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	27	0	0	0	1	0	7	27				
POM121L12	285877	broad.mit.edu	37	7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632																																						ENST00000408890.4																			2	Substitution - Missense(2)	p.A270V(2)	large_intestine(1)|endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(808-810)gCg>gTg		POM121 transmembrane nucleoporin-like 12							49.0	55.0	53.0					7																	53104173		2017	4179	6196	SO:0001583	missense	285877							g.chr7:53104173C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.809C>T	7.37:g.53104173C>T	ENSP00000386133:p.Ala270Val						p.A270V	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	825	+			270					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.809C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807834	0.16467	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.20240	-1.0281	9	0.54805	T	0.06	.	0.7833	0.01044	0.2064:0.3456:0.1383:0.3097	.	270	Q8N7R1	P1L12_HUMAN	V	270	ENSP00000386133:A270V	ENSP00000386133:A270V	A	+	2	0	POM121L12	53071667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.654000	0.05354	-1.936000	0.01048	-1.243000	0.01532	GCG		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		29	79	0	0	0	1	0	29	79				
OR2D2	120776	broad.mit.edu	37	11	6913228	6913228	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:6913228G>A	ENST00000299459.2	-	1	602	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGCCTCGGTAGGGTAGCC	0.493																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(502-504)taC>taT		olfactory receptor, family 2, subfamily D, member 2							107.0	84.0	92.0					11																	6913228		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913228G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.504C>T	11.37:g.6913228G>A							p.Y168Y	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	602	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	168					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.504C>T	CCDS31416.1																																																																																				0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		55	31	0	0	0	1	0	55	31				
PPP6R1	22870	broad.mit.edu	37	19	55748070	55748070	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:55748070G>A	ENST00000412770.2	-	17	2495	c.1929C>T	c.(1927-1929)ggC>ggT	p.G643G	PPP6R1_ENST00000587283.1_Silent_p.G643G|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	643	Glu-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCTGCCAGGCGCCATCTTCTC	0.622																																						ENST00000412770.2																			0				breast(1)	1						c.(1927-1929)ggC>ggT		protein phosphatase 6, regulatory subunit 1							38.0	40.0	39.0					19																	55748070		1949	4135	6084	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748070G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1929C>T	19.37:g.55748070G>A						PPP6R1_ENST00000587283.1_Silent_p.G643G	p.G643G	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			17	2495	-			643			Glu-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.1929C>T	CCDS46186.1																																																																																				0.622	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		3	32	0	0	0	1	0	3	32				
OR5L2	26338	broad.mit.edu	37	11	55595554	55595554	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:55595554C>T	ENST00000378397.1	+	1	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGCTGAACCCCCTGATCTAC	0.438										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(859-861)cCc>cTc		olfactory receptor, family 5, subfamily L, member 2							57.0	57.0	57.0					11																	55595554		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595554C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.860C>T	11.37:g.55595554C>T	ENSP00000367650:p.Pro287Leu	HNSCC(27;0.073)					p.P287L	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	860	+		all_epithelial(135;0.208)	287					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.860C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.068150	0.76301	.	.	ENSG00000205030	ENST00000378397	T	0.63417	-0.04	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.81297	0.4793	H	0.96208	3.785	0.58432	D	0.999992	D	0.59357	0.985	P	0.55087	0.768	D	0.86946	0.2082	10	0.87932	D	0	-51.3685	12.9744	0.58529	0.0:0.9199:0.0:0.0801	.	287	Q8NGL0	OR5L2_HUMAN	L	287	ENSP00000367650:P287L	ENSP00000367650:P287L	P	+	2	0	OR5L2	55352130	0.998000	0.40836	0.941000	0.38009	0.693000	0.40251	4.700000	0.61803	1.292000	0.44672	0.536000	0.68110	CCC		0.438	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		15	73	0	0	0	1	0	15	73				
TRIM11	81559	broad.mit.edu	37	1	228584661	228584661	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:228584661C>T	ENST00000284551.6	-	5	1124	c.846G>A	c.(844-846)ctG>ctA	p.L282L	TRIM11_ENST00000366699.3_Silent_p.L282L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Silent_p.L157L|TRIM11_ENST00000460651.1_5'UTR	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAAACCTCCGCAGTGTCTCTA	0.632																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(469-471)ctG>ctA		tripartite motif containing 11							81.0	79.0	80.0					1																	228584661		2203	4300	6503	SO:0001819	synonymous_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228584661C>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.846G>A	1.37:g.228584661C>T						TRIM11_ENST00000366699.3_Silent_p.L282L|TRIM11_ENST00000284551.6_Silent_p.L282L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR	p.L157L			Q96F44	TRI11_HUMAN			4	4180	-		Prostate(94;0.0724)	282					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	c.471G>A	CCDS31048.1																																																																																				0.632	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		4	94	0	0	0	1	0	4	94				
ACTG1	71	broad.mit.edu	37	17	79479040	79479040	+	Silent	SNP	C	C	T	rs139059365	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79479040C>T	ENST00000575842.1	-	2	678	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Silent_p.K84K|ACTG1_ENST00000573283.1_Silent_p.K84K|ACTG1_ENST00000331925.2_Silent_p.K84K|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	84					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTGCCAGATCTTCTCCATGT	0.622																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(250-252)aaG>aaA		actin, gamma 1		C	,	6,4400	11.4+/-27.6	0,6,2197	67.0	69.0	68.0		252,252	0.6	1.0	17	dbSNP_134	68	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ACTG1	NM_001199954.1,NM_001614.3	,	0,6,6496	TT,TC,CC		0.0,0.1362,0.0461	,	84/376,84/376	79479040	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479040C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.252G>A	17.37:g.79479040C>T						ACTG1_ENST00000575087.1_Silent_p.K84K|ACTG1_ENST00000573283.1_Silent_p.K84K|ACTG1_ENST00000331925.2_Silent_p.K84K	p.K84K			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	678	-	all_neural(118;0.0878)|Melanoma(429;0.242)		84					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.252G>A	CCDS11782.1																																																																																				0.622	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		88	64	0	0	0	1	0	88	64				
ADAM21P1	145241	broad.mit.edu	37	14	70714163	70714163	+	RNA	SNP	T	T	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:70714163T>G	ENST00000530196.1	-	0	355					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATGAACAACATGTTTCTGGTC	0.517																																						ENST00000530196.1																			0																																																			145241							g.chr14:70714163T>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714163T>G								NR_003951.1						0	355	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.517	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		6	130	0	0	0	1	0	6	130				
OR2T4	127074	broad.mit.edu	37	1	248525491	248525491	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:248525491C>T	ENST00000366475.1	+	1	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCGTGGATCCCGGGAGATTC	0.498																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(607-609)tcC>tcT		olfactory receptor, family 2, subfamily T, member 4							201.0	187.0	192.0					1																	248525491		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525491C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.609C>T	1.37:g.248525491C>T							p.S203S	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	609	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.609C>T	CCDS31113.1																																																																																				0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		86	190	0	0	0	1	0	86	190				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	59	0	0	0	1	0	4	59				
PCLO	27445	broad.mit.edu	37	7	82581207	82581207	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:82581207G>A	ENST00000333891.9	-	5	9399	c.9062C>T	c.(9061-9063)aCa>aTa	p.T3021I	PCLO_ENST00000423517.2_Missense_Mutation_p.T3021I|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTACTGCTGTGTCAGTTCC	0.398																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9061-9063)aCa>aTa		piccolo presynaptic cytomatrix protein							69.0	69.0	69.0					7																	82581207		1861	4108	5969	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581207G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9062C>T	7.37:g.82581207G>A	ENSP00000334319:p.Thr3021Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.T3021I	p.T3021I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9399	-			2952						Missense_Mutation	SNP	ENST00000333891.9	37	c.9062C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	7.440	0.640471	0.14386	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.84	5.84	0.93424	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.10154	-1.0642	9	0.87932	D	0	.	10.5204	0.44916	0.1435:0.0:0.8565:0.0	.	3021;3021	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2952;3021;3021	ENSP00000334319:T3021I;ENSP00000388393:T3021I	ENSP00000334319:T3021I	T	-	2	0	PCLO	82419143	0.992000	0.36948	0.998000	0.56505	0.943000	0.58893	3.019000	0.49635	2.756000	0.94617	0.557000	0.71058	ACA		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		27	68	0	0	0	1	0	27	68				
DAAM2	23500	broad.mit.edu	37	6	39859410	39859410	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:39859410G>A	ENST00000398904.2	+	19	2435	c.2253G>A	c.(2251-2253)agG>agA	p.R751R	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000538976.1_Splice_Site_p.R751R|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Splice_Site_p.R751R|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	751	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTGTCTACAGGATTGACCACT	0.577																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.e19-1		dishevelled associated activator of morphogenesis 2							31.0	33.0	32.0					6																	39859410		2038	4191	6229	SO:0001630	splice_region_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39859410G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2253-1G>A	6.37:g.39859410G>A						RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Splice_Site_p.R751_splice|DAAM2_ENST00000398904.2_Splice_Site_p.R751_splice|RP11-61I13.3_ENST00000430595.1_RNA	p.R751_splice	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			19	2435	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		751			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Splice_Site	SNP	ENST00000398904.2	37	c.2252_splice	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		Silent	6	18	0	0	0	1	0	6	18				
CDKN2A	1029	broad.mit.edu	37	9	21971088	21971088	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21971088G>T	ENST00000304494.5	-	2	540	c.270C>A	c.(268-270)ttC>ttA	p.F90L	CDKN2A_ENST00000498628.2_Missense_Mutation_p.F39L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P105T|CDKN2A_ENST00000497750.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P105T|CDKN2A_ENST00000446177.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P146T|CDKN2A_ENST00000498124.1_Missense_Mutation_p.F90L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	90					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.F90F(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTGTCCAGGAAGCCCTCCC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Deletion - In frame(2)|Substitution - coding silent(1)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.F90F(1)	haematopoietic_and_lymphoid_tissue(283)|skin(176)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(313-315)Cct>Act		cyclin-dependent kinase inhibitor 2A							14.0	17.0	16.0					9																	21971088		2181	4256	6437	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971088G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.270C>A	9.37:g.21971088G>T	ENSP00000307101:p.Phe90Leu	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000578845.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P105T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P146T|CDKN2A_ENST00000304494.5_Missense_Mutation_p.F90L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.F39L	p.P105T			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	605	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		Missing.			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.313C>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.28|17.28	3.350175|3.350175	0.61183|0.61183	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93133|0.86497	-3.17;-3.17|-2.13;-2.01	5.93|5.93	5.04|5.04	0.67666|0.67666	Ankyrin repeat-containing domain (4);|.	.|0.434068	.|0.17160	.|N	.|0.184714	T|T	0.81226|0.81226	0.4778|0.4778	L|L	0.32530|0.32530	0.975|0.975	0.39310|0.39310	D|D	0.965069|0.965069	D|P	0.67145|0.46277	0.996|0.875	D|B	0.65573|0.41440	0.936|0.357	T|T	0.82327|0.82327	-0.0512|-0.0512	9|10	0.37606|0.66056	T|D	0.19|0.02	-12.1311|-12.1311	10.2061|10.2061	0.43114|0.43114	0.1529:0.0:0.8471:0.0|0.1529:0.0:0.8471:0.0	.|.	90|146	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	L|T	90|146;105	ENSP00000307101:F90L;ENSP00000394932:F90L|ENSP00000355153:P146T;ENSP00000432664:P105T	ENSP00000307101:F90L|ENSP00000355153:P146T	F|P	-|-	3|1	2|0	CDKN2A|CDKN2A	21961088|21961088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.215000|3.215000	0.51169|0.51169	1.518000|1.518000	0.48934|0.48934	0.655000|0.655000	0.94253|0.94253	TTC|CCT		0.751	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		19	22	1	0	4.96729e-08	1	5.23894e-08	19	22				
PDE1C	5137	broad.mit.edu	37	7	31918738	31918738	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:31918738G>A	ENST00000396191.1	-	4	751	c.296C>T	c.(295-297)cCt>cTt	p.P99L	PDE1C_ENST00000396182.2_Missense_Mutation_p.P99L|PDE1C_ENST00000396184.3_Missense_Mutation_p.P99L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P99L|PDE1C_ENST00000396193.1_Missense_Mutation_p.P159L	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	99					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GACCTCAGAAGGCACAGCATC	0.527																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(295-297)cCt>cTt		phosphodiesterase 1C, calmodulin-dependent 70kDa							104.0	93.0	96.0					7																	31918738		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31918738G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.296C>T	7.37:g.31918738G>A	ENSP00000379494:p.Pro99Leu					PDE1C_ENST00000396193.1_Missense_Mutation_p.P159L|PDE1C_ENST00000396191.1_Missense_Mutation_p.P99L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P99L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P99L	p.P99L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	500	-			99					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.296C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385965	0.82902	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.79033	-1.2;-1.23;-1.23;-1.16;-1.16	5.72	5.72	0.89469	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	M	0.86651	2.83	0.80722	D	1	B;D;B	0.89917	0.014;1.0;0.071	B;D;B	0.87578	0.134;0.998;0.099	D	0.91051	0.4878	10	0.72032	D	0.01	.	19.4597	0.94912	0.0:0.0:1.0:0.0	.	99;159;99	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	L	159;99;99;99;99	ENSP00000379496:P159L;ENSP00000379494:P99L;ENSP00000318105:P99L;ENSP00000379487:P99L;ENSP00000379485:P99L	ENSP00000318105:P99L	P	-	2	0	PDE1C	31885263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	CCT		0.527	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			17	87	0	0	0	1	0	17	87				
ZPLD1	131368	broad.mit.edu	37	3	102183053	102183053	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:102183053C>T	ENST00000491959.1	+	14	1601	c.719C>T	c.(718-720)tCa>tTa	p.S240L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S240L|ZPLD1_ENST00000306176.1_Missense_Mutation_p.S256L			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	240	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTACCCCATCAGGAAACCCA	0.323																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(766-768)tCa>tTa		zona pellucida-like domain containing 1							200.0	195.0	197.0					3																	102183053		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102183053C>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.719C>T	3.37:g.102183053C>T	ENSP00000420265:p.Ser240Leu					ZPLD1_ENST00000491959.1_Missense_Mutation_p.S240L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S240L	p.S256L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			7	867	+			240			ZP.		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.767C>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.788863	0.90367	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83591	-1.74;-1.74;-1.74	5.6	5.6	0.85130	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.989	D	0.91493	0.5213	10	0.51188	T	0.08	-6.463	19.6097	0.95600	0.0:1.0:0.0:0.0	.	256;240	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	L	240;256;240	ENSP00000420265:S240L;ENSP00000307801:S256L;ENSP00000418253:S240L	ENSP00000307801:S256L	S	+	2	0	ZPLD1	103665743	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.802000	0.85969	2.630000	0.89119	0.591000	0.81541	TCA		0.323	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		47	117	0	0	0	1	0	47	117				
NFXL1	152518	broad.mit.edu	37	4	47853937	47853937	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:47853937C>T	ENST00000507489.1	-	21	2620	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	815						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R815H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTGATTTTCACGTACTTTGTT	0.358																																						ENST00000507489.1																			1	Substitution - Missense(1)	p.R815H(1)	ovary(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(2443-2445)cGt>cAt		nuclear transcription factor, X-box binding-like 1							181.0	162.0	168.0					4																	47853937		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47853937C>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2444G>A	4.37:g.47853937C>T	ENSP00000422037:p.Arg815His					NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H	p.R815H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			21	2620	-			815					B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.2444G>A	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502008	0.85176	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29917	1.55;1.55	5.82	5.82	0.92795	.	0.086607	0.49916	D	0.000125	T	0.40670	0.1126	M	0.67397	2.05	0.80722	D	1	D	0.61080	0.989	P	0.47981	0.563	T	0.30880	-0.9963	10	0.59425	D	0.04	-33.223	14.2902	0.66273	0.0:0.9273:0.0:0.0727	.	815	Q6ZNB6	NFXL1_HUMAN	H	815	ENSP00000370949:R815H;ENSP00000422037:R815H	ENSP00000370949:R815H	R	-	2	0	NFXL1	47548694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.576000	0.36504	2.760000	0.94817	0.655000	0.94253	CGT		0.358	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		11	120	0	0	0	1	0	11	120				
FOLH1B	219595	broad.mit.edu	37	11	89431782	89431782	+	RNA	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:89431782G>A	ENST00000532352.1	+	0	2064							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTCTTTAGAGACTCTGTATT	0.358																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							58.0	59.0	58.0					11																	89431782		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431782G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431782G>A										Q9HBA9	FOH1B_HUMAN			0	2064	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.358	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		12	35	0	0	0	1	0	12	35				
PLTP	5360	broad.mit.edu	37	20	44538243	44538243	+	Missense_Mutation	SNP	G	G	A	rs138807551		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:44538243G>A	ENST00000477313.1	-	4	991	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PLTP_ENST00000542937.1_Missense_Mutation_p.R153W|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.R133W|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45W			P55058	PLTP_HUMAN	phospholipid transfer protein	133					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCGGGATCCCGGGAGAGCTCC	0.597																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(457-459)Cgg>Tgg		phospholipid transfer protein		G	,TRP/ARG,TRP/ARG,	1,4405	2.1+/-5.4	0,1,2202	83.0	84.0	83.0		,133,397,	-1.0	0.9	20	dbSNP_134	83	4,8596	3.0+/-9.4	0,4,4296	no	intron,missense,missense,intron	PLTP	NM_001242920.1,NM_001242921.1,NM_006227.3,NM_182676.2	,101,101,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,probably-damaging,probably-damaging,	,45/406,133/494,	44538243	5,13001	2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44538243G>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.397C>T	20.37:g.44538243G>A	ENSP00000417138:p.Arg133Trp					PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45W|PLTP_ENST00000372431.3_Missense_Mutation_p.R133W|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133W	p.R153W			P55058	PLTP_HUMAN			4	991	-		Myeloproliferative disorder(115;0.0122)	133					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.457C>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667702	0.67814	2.27E-4	4.65E-4	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.97	-1.05	0.10036	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.356490	0.30219	N	0.010136	T	0.16214	0.0390	L	0.53249	1.67	0.40260	D	0.978162	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;D;D;D	0.63113	0.861;0.911;0.911;0.911	T	0.01630	-1.1308	10	0.62326	D	0.03	-8.5399	8.4517	0.32875	0.0:0.2002:0.2167:0.5831	.	45;133;133;153	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	W	45;133;133;153	ENSP00000361497:R45W;ENSP00000361508:R133W;ENSP00000417138:R133W;ENSP00000440296:R153W	ENSP00000361497:R45W	R	-	1	2	PLTP	43971650	1.000000	0.71417	0.884000	0.34674	0.671000	0.39405	1.744000	0.38268	0.015000	0.14971	0.462000	0.41574	CGG		0.597	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		19	151	0	0	0	1	0	19	151				
PLEKHA7	144100	broad.mit.edu	37	11	16816136	16816136	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:16816136A>T	ENST00000355661.3	-	19	2654	c.2644T>A	c.(2644-2646)Ttc>Atc	p.F882I	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F882I|PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F882I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	882	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCTGGGGGAAGAGTCGAACC	0.617																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2644-2646)Ttc>Atc		pleckstrin homology domain containing, family A member 7							64.0	71.0	69.0					11																	16816136		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16816136A>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2644T>A	11.37:g.16816136A>T	ENSP00000347883:p.Phe882Ile					PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F882I|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F882I|PLEKHA7_ENST00000532079.1_Intron	p.F882I			Q6IQ23	PKHA7_HUMAN			19	2654	-			882			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.2644T>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315396	0.81358	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.24151	1.87;1.87;1.87	5.6	5.6	0.85130	.	0.257506	0.40818	N	0.001012	T	0.23289	0.0563	L	0.36672	1.1	0.29798	N	0.83268	P;B;P;P	0.43094	0.617;0.179;0.799;0.763	B;B;B;B	0.40901	0.173;0.036;0.343;0.288	T	0.07888	-1.0749	10	0.23302	T	0.38	-18.8808	16.0858	0.81049	1.0:0.0:0.0:0.0	.	456;882;882;882	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	I	882	ENSP00000435389:F882I;ENSP00000347883:F882I;ENSP00000416895:F882I	ENSP00000347883:F882I	F	-	1	0	PLEKHA7	16772712	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.853000	0.75435	2.264000	0.75181	0.533000	0.62120	TTC		0.617	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		11	141	0	0	0	1	0	11	141				
HOXA5	3202	broad.mit.edu	37	7	27181546	27181546	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:27181546T>C	ENST00000222726.3	-	2	781	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	241					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TGGAACCAGATTTTAATTTGT	0.493											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(721-723)Atc>Gtc		homeobox A5							118.0	119.0	119.0					7																	27181546		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27181546T>C		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.721A>G	7.37:g.27181546T>C	ENSP00000222726:p.Ile241Val		OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR	p.I241V	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			2	781	-			241					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.721A>G	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346862	0.61183	.	.	ENSG00000106004	ENST00000222726	D	0.95656	-3.77	4.76	4.76	0.60689	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	N	0.21194	0.64	0.80722	D	1	D	0.63046	0.992	D	0.83275	0.996	D	0.96438	0.9324	10	0.87932	D	0	.	14.5605	0.68133	0.0:0.0:0.0:1.0	.	241	P20719	HXA5_HUMAN	V	241	ENSP00000222726:I241V	ENSP00000222726:I241V	I	-	1	0	HOXA5	27148071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	1.915000	0.55452	0.443000	0.29094	ATC		0.493	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			4	176	0	0	0	1	0	4	176				
ATP8A1	10396	broad.mit.edu	37	4	42580325	42580325	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:42580325C>T	ENST00000381668.5	-	12	1311	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	ATP8A1_ENST00000264449.10_Silent_p.L360L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	360					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L360F(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTAATGTAACCAATAAGCTGA	0.358																																						ENST00000381668.5																			2	Substitution - Missense(2)	p.L360F(2)	lung(2)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1078-1080)ttG>ttA		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						104.0	104.0	104.0					4																	42580325		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42580325C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1080G>A	4.37:g.42580325C>T						ATP8A1_ENST00000264449.10_Silent_p.L360L	p.L360L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			12	1311	-			360					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.1080G>A	CCDS3466.1																																																																																				0.358	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		18	80	0	0	0	1	0	18	80				
ATP7B	540	broad.mit.edu	37	13	52515327	52515327	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:52515327C>A	ENST00000242839.4	-	16	3602	c.3446G>T	c.(3445-3447)gGa>gTa	p.G1149V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G1071V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G942V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G360V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G719V|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1084V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1038V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1149			G -> A (in WD). {ECO:0000269|PubMed:18373411}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCACGGTTTCCAATCAGCAC	0.468									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CM081179	ATP7B	M		c.(3445-3447)gGa>gTa		ATPase, Cu++ transporting, beta polypeptide							112.0	107.0	109.0					13																	52515327		1975	4147	6122	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52515327C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3446G>T	13.37:g.52515327C>A	ENSP00000242839:p.Gly1149Val					ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.G719V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1084V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G360V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1038V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1071V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G942V	p.G1149V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	16	3602	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1149		G -> A (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3446G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158966	0.78226	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.0	5.0	0.66597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98375	0.9460	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.996;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;0.993;1.0;0.981	D	0.99211	1.0876	10	0.87932	D	0	-18.0313	18.8402	0.92180	0.0:1.0:0.0:0.0	.	1071;1101;1084;360;719;1038;942;1149	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	V	1149;1038;942;360;1071;719;1084	ENSP00000242839:G1149V;ENSP00000383217:G1038V;ENSP00000342559:G942V;ENSP00000390360:G360V;ENSP00000416738:G1071V;ENSP00000383221:G719V;ENSP00000393343:G1084V	ENSP00000242839:G1149V	G	-	2	0	ATP7B	51413328	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.537000	0.82033	2.757000	0.94681	0.655000	0.94253	GGA		0.468	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		24	60	1	0	1.55469e-16	1	1.69261e-16	24	60				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																154754							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	70	0	0	0	1	0	4	70				
PCNT	5116	broad.mit.edu	37	21	47776888	47776888	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr21:47776888G>C	ENST00000359568.5	+	13	2043		c.e13-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTCCACACAGAGCTTCCCTG	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	GRCh37	CS080727	PCNT	S		c.e13-1		pericentrin							46.0	43.0	44.0					21																	47776888		2203	4299	6502	SO:0001630	splice_region_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47776888G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1937-1G>C	21.37:g.47776888G>C						PCNT_ENST00000480896.1_Splice_Site		NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			13	2043	+	Breast(49;0.112)							O43152|Q7Z7C9	Splice_Site	SNP	ENST00000359568.5	37		CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095224	0.36952	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCNT	46601316	1.000000	0.71417	0.050000	0.19076	0.002000	0.02628	5.684000	0.68197	2.230000	0.72887	0.561000	0.74099	.		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	Intron	7	70	0	0	0	1	0	7	70				
NDUFA13	51079	broad.mit.edu	37	19	19625862	19625862	+	5'Flank	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:19625862G>A	ENST00000507754.4	+	0	0				TSSK6_ENST00000360913.3_Silent_p.Y125Y|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000585580.3_Silent_p.Y125Y|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GATCGTGCAGGTAGCGCACGG	0.692																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(373-375)taC>taT		testis-specific serine kinase 6							38.0	42.0	40.0					19																	19625862		2203	4298	6501	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625862G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625862G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.Y125Y	p.Y125Y			Q9BXA6	TSSK6_HUMAN			1	976	-			125			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.375C>T	CCDS12404.2																																																																																				0.692	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		19	66	0	0	0	1	0	19	66				
JMJD1C	221037	broad.mit.edu	37	10	64960317	64960317	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:64960317C>T	ENST00000399262.2	-	11	5413	c.5195G>A	c.(5194-5196)cGa>cAa	p.R1732Q	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1550Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1513Q|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1732					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTACATTCTCGACACTTTTG	0.383																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5194-5196)cGa>cAa		jumonji domain containing 1C							77.0	71.0	73.0					10																	64960317		1846	4108	5954	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960317C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5195G>A	10.37:g.64960317C>T	ENSP00000382204:p.Arg1732Gln					JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1550Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1513Q	p.R1732Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			11	5413	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1732					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5195G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716506	0.96830	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.65732	0.14;-0.17;0.14	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.78492	-0.2183	10	0.62326	D	0.03	-9.5815	20.1736	0.98170	0.0:1.0:0.0:0.0	.	1732;1550	Q15652;A0T124	JHD2C_HUMAN;.	Q	1732;1513;1550	ENSP00000382204:R1732Q;ENSP00000384990:R1513Q;ENSP00000444682:R1550Q	ENSP00000382204:R1732Q	R	-	2	0	JMJD1C	64630323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.767000	0.95098	0.557000	0.71058	CGA		0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		35	70	0	0	0	1	0	35	70				
PQLC2L	152078	broad.mit.edu	37	3	157289047	157289047	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:157289047C>T	ENST00000449199.2	+	3	306	c.165C>T	c.(163-165)gaC>gaT	p.D55D	C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Silent_p.D55D|C3orf55_ENST00000312275.5_Silent_p.D55D|C3orf55_ENST00000459838.1_Silent_p.D55D	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		55										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TAGGTGGAGACCTGACAAATT	0.428																																						ENST00000449199.2																			0				breast(1)|lung(1)	2						c.(163-165)gaC>gaT		chromosome 3 open reading frame 55							113.0	111.0	112.0					3																	157289047		1989	4176	6165	SO:0001819	synonymous_variant	152078							g.chr3:157289047C>T																												ENST00000449199.2:c.165C>T	3.37:g.157289047C>T						C3orf55_ENST00000459838.1_Silent_p.D55D|C3orf55_ENST00000426338.2_Silent_p.D55D|C3orf55_ENST00000312275.5_Silent_p.D55D|C3orf55_ENST00000461040.1_Intron	p.D55D	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)		3	306	+			55					C9JP04|C9JXB5|Q8N6Q6	Silent	SNP	ENST00000449199.2	37	c.165C>T	CCDS46943.1																																																																																				0.428	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352018.1			8	39	0	0	0	1	0	8	39				
ADAM21P1	145241	broad.mit.edu	37	14	70713760	70713760	+	RNA	SNP	A	A	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:70713760A>C	ENST00000530196.1	-	0	758					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GAAACCATGCATGAGTCCACC	0.438																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713760A>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713760A>C								NR_003951.1						0	758	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.438	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		19	108	0	0	0	1	0	19	108				
MACF1	23499	broad.mit.edu	37	1	39797211	39797211	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:39797211A>G	ENST00000372915.3	+	36	5053	c.4966A>G	c.(4966-4968)Atc>Gtc	p.I1656V	MACF1_ENST00000567887.1_Missense_Mutation_p.I1688V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.I91V|MACF1_ENST00000564288.1_Missense_Mutation_p.I1651V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1656					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTGAAAATCTTAGAAGC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4951-4953)Atc>Gtc		microtubule-actin crosslinking factor 1							81.0	83.0	82.0					1																	39797211		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797211A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4966A>G	1.37:g.39797211A>G	ENSP00000362006:p.Ile1656Val					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.I91V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.I1688V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1656V	p.I1651V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	5728	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1656					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4951A>G		.	.	.	.	.	.	.	.	.	.	A	8.322	0.824461	0.16678	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71461	-0.57;-0.57	5.76	2.68	0.31781	.	0.225320	0.30979	N	0.008481	T	0.45736	0.1357	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.24728	-1.0152	10	0.06625	T	0.88	.	8.5211	0.33275	0.7881:0.0:0.2119:0.0	.	1656	Q9UPN3	MACF1_HUMAN	V	1656;91	ENSP00000362006:I1656V;ENSP00000289893:I91V	ENSP00000289893:I91V	I	+	1	0	MACF1	39569798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.719000	0.54926	0.221000	0.20879	0.528000	0.53228	ATC		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		34	121	0	0	0	1	0	34	121				
IGHV3-64	28414	broad.mit.edu	37	14	107113751	107113751	+	RNA	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:107113751T>C	ENST00000454421.2	-	0	420									immunoglobulin heavy variable 3-64																		TCTCGCACAGTAATACACAGC	0.537																																						ENST00000454421.2																			0																				154.0	165.0	161.0					14																	107113751		2058	4234	6292			28414							g.chr14:107113751T>C	M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971		14.37:g.107113751T>C														0	420	-									RNA	SNP	ENST00000454421.2	37																																																																																						0.537	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324617.1	NG_001019		48	270	0	0	0	1	0	48	270				
SLC8A1	6546	broad.mit.edu	37	2	40656194	40656194	+	Silent	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:40656194G>T	ENST00000403092.1	-	2	1260	c.1227C>A	c.(1225-1227)atC>atA	p.I409I	SLC8A1_ENST00000405901.3_Silent_p.I409I|SLC8A1_ENST00000332839.4_Silent_p.I409I|SLC8A1_ENST00000406785.2_Silent_p.I409I|SLC8A1_ENST00000542756.1_Silent_p.I409I|SLC8A1_ENST00000402441.1_Silent_p.I409I|SLC8A1_ENST00000542024.1_Silent_p.I409I|SLC8A1_ENST00000408028.2_Silent_p.I409I|SLC8A1_ENST00000405269.1_Silent_p.I409I|SLC8A1_ENST00000406391.2_Silent_p.I409I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	409	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTTCAAAGAAGATCTTACTAA	0.458																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1225-1227)atC>atA		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						114.0	92.0	100.0					2																	40656194		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656194G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1227C>A	2.37:g.40656194G>T						SLC8A1_ENST00000406391.2_Silent_p.I409I|SLC8A1_ENST00000405901.3_Silent_p.I409I|SLC8A1_ENST00000405269.1_Silent_p.I409I|SLC8A1_ENST00000403092.1_Silent_p.I409I|SLC8A1_ENST00000332839.4_Silent_p.I409I|SLC8A1_ENST00000542756.1_Silent_p.I409I|SLC8A1_ENST00000402441.1_Silent_p.I409I|SLC8A1_ENST00000408028.2_Silent_p.I409I|SLC8A1_ENST00000542024.1_Silent_p.I409I	p.I409I			P32418	NAC1_HUMAN			2	1416	-			409			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1227C>A	CCDS1806.1																																																																																				0.458	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		24	192	1	0	1.42536e-11	1	1.51514e-11	24	192				
EYA4	2070	broad.mit.edu	37	6	133769265	133769265	+	Silent	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:133769265T>C	ENST00000367895.5	+	5	689	c.225T>C	c.(223-225)gtT>gtC	p.V75V	EYA4_ENST00000531901.1_Silent_p.V75V|EYA4_ENST00000431403.2_Silent_p.V75V|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355167.3_Silent_p.V75V|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355286.6_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	75					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACATGACTGTTTTAAACACAG	0.438																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(223-225)gtT>gtC		eyes absent homolog 4 (Drosophila)							125.0	105.0	112.0					6																	133769265		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133769265T>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.225T>C	6.37:g.133769265T>C						EYA4_ENST00000431403.2_Silent_p.V75V|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Silent_p.V75V|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Silent_p.V75V	p.V75V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	5	689	+	Colorectal(23;0.221)		75					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.225T>C	CCDS5165.1																																																																																				0.438	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		19	63	0	0	0	1	0	19	63				
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	C	T	rs375025132		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3490-3492)gcG>gcA		jagged 2		C	,	0,4362		0,0,2181	13.0	14.0	14.0		3492,3378	-0.1	0.8	14		14	1,8519		0,1,4259	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	,	1164/1239,1126/1201	105609257	1,12881	2181	4260	6441	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609257C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3492G>A	14.37:g.105609257C>T						JAG2_ENST00000347004.2_Silent_p.A1126A	p.A1164A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3895	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1164					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.3492G>A	CCDS9998.1																																																																																				0.706	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			12	44	0	0	0	1	0	12	44				
C1orf106	55765	broad.mit.edu	37	1	200869306	200869306	+	Silent	SNP	C	C	T	rs34596202	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:200869306C>T	ENST00000367342.4	+	4	710	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_ENST00000413687.2_Silent_p.I85I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20369	0.0		0.0	False		,,,				2504	0.0					ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(508-510)atC>atT		chromosome 1 open reading frame 106		C	,	2,4404	4.2+/-10.8	0,2,2201	66.0	62.0	63.0		255,510	-8.6	0.6	1	dbSNP_126	63	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	C1orf106	NM_001142569.2,NM_018265.3	,	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	,	85/579,170/664	200869306	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200869306C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.510C>T	1.37:g.200869306C>T						C1orf106_ENST00000413687.2_Silent_p.I85I	p.I170I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			4	710	+			170					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.510C>T																																																																																					0.607	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		18	47	0	0	0	1	0	18	47				
HERC2P2	400322	broad.mit.edu	37	15	23316091	23316091	+	RNA	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:23316091G>A	ENST00000560464.1	-	0	2848									hect domain and RLD 2 pseudogene 2																		ATCTCAGCATGAACTCCAGCA	0.453																																						ENST00000560464.1																			0																																																			400322							g.chr15:23316091G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23316091G>A														0	2848	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.453	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			21	120	0	0	0	1	0	21	120				
LIG1	3978	broad.mit.edu	37	19	48643366	48643366	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:48643366G>A	ENST00000263274.7	-	12	1368	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	LIG1_ENST00000427526.2_Missense_Mutation_p.R286C|LIG1_ENST00000536218.1_Missense_Mutation_p.R249C	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	317					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACCACGGAGCGCAGCAAGTTG	0.657								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(949-951)Cgc>Tgc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						57.0	46.0	50.0					19																	48643366		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48643366G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.949C>T	19.37:g.48643366G>A	ENSP00000263274:p.Arg317Cys					LIG1_ENST00000427526.2_Missense_Mutation_p.R286C|LIG1_ENST00000536218.1_Missense_Mutation_p.R249C	p.R317C	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	12	1368	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	317					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.949C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379164	0.82682	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.89	4.89	0.63831	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.78344	2.41	0.80722	D	1	D;P;D	0.76494	0.987;0.927;0.999	D;P;D	0.71184	0.917;0.533;0.972	T	0.47394	-0.9121	10	0.51188	T	0.08	-19.6312	15.9225	0.79586	0.0:0.0:1.0:0.0	.	286;249;317	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	C	317;348;286;249;285	ENSP00000263274:R317C;ENSP00000442841:R286C;ENSP00000441531:R249C;ENSP00000445928:R285C	ENSP00000263274:R317C	R	-	1	0	LIG1	53335178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.331000	0.72929	2.416000	0.81992	0.655000	0.94253	CGC		0.657	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		31	29	0	0	0	1	0	31	29				
MOSPD3	64598	broad.mit.edu	37	7	100211107	100211107	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:100211107C>T	ENST00000393950.2	+	3	571	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MOSPD3_ENST00000223054.4_Missense_Mutation_p.R97C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R97C|MOSPD3_ENST00000424091.2_Intron	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	97	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGTGTGATTCGCCATGTGGC	0.582																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(289-291)Cgc>Tgc		motile sperm domain containing 3							64.0	63.0	63.0					7																	100211107		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100211107C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.289C>T	7.37:g.100211107C>T	ENSP00000377522:p.Arg97Cys					MOSPD3_ENST00000424091.2_Intron|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R97C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R97C	p.R97C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			3	571	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		97			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.289C>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994913	0.74703	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000393953	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	3.99	3.99	0.46301	PapD-like (2);	0.000000	0.56097	D	0.000040	T	0.82250	0.4996	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84435	0.0579	10	0.87932	D	0	-13.3309	14.404	0.67068	0.0:1.0:0.0:0.0	.	97	O75425	MSPD3_HUMAN	C	97;97;97;97;83	ENSP00000223054:R97C;ENSP00000417276:R97C;ENSP00000368842:R97C;ENSP00000377522:R97C	ENSP00000223054:R97C	R	+	1	0	MOSPD3	100049043	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.232000	0.51302	2.526000	0.85167	0.462000	0.41574	CGC		0.582	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		12	58	0	0	0	1	0	12	58				
PDCD10	11235	broad.mit.edu	37	3	167422683	167422683	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:167422683G>C	ENST00000392750.2	-	4	514	c.97C>G	c.(97-99)Cta>Gta	p.L33V	PDCD10_ENST00000470131.1_Splice_Site_p.L33V|PDCD10_ENST00000461494.1_Splice_Site_p.L33V|PDCD10_ENST00000471885.1_Splice_Site_p.L33V|PDCD10_ENST00000487947.2_Splice_Site_p.L33V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000473645.2_Splice_Site_p.L33V|PDCD10_ENST00000497056.2_Splice_Site_p.L33V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	33					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTCGTTCTAGCTGCaataaa	0.333																																						ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.e4-1		programmed cell death 10							44.0	45.0	45.0					3																	167422683		2203	4300	6503	SO:0001630	splice_region_variant	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167422683G>C	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.97-1C>G	3.37:g.167422683G>C						PDCD10_ENST00000487947.2_Splice_Site_p.L33_splice|PDCD10_ENST00000497056.2_Splice_Site_p.L33_splice|PDCD10_ENST00000461494.1_Splice_Site_p.L33_splice|PDCD10_ENST00000473645.2_Splice_Site_p.L33_splice|PDCD10_ENST00000471885.1_Splice_Site_p.L33_splice|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000470131.1_Splice_Site_p.L33_splice	p.L33_splice	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN			4	514	-			33					A8K515|D3DNN5|O14811	Splice_Site	SNP	ENST00000392750.2	37	c.96_splice	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.927126|2.927126	0.52759|0.52759	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000479121|ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56444	.|0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.68|5.68	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37785|0.37785	0.1016|0.1016	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	.|B	.|0.29646	.|0.253	.|B	.|0.22152	.|0.038	T|T	0.26292|0.26292	-1.0107|-1.0107	5|10	.|0.52906	.|T	.|0.07	-20.894|-20.894	14.4223|14.4223	0.67193|0.67193	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|33	.|Q9BUL8	.|PDC10_HUMAN	G|V	13|33	.|ENSP00000376506:L33V;ENSP00000418317:L33V;ENSP00000420553:L33V;ENSP00000420021:L33V;ENSP00000417202:L33V;ENSP00000417118:L33V;ENSP00000420266:L33V;ENSP00000417876:L33V;ENSP00000420424:L33V;ENSP00000420014:L33V;ENSP00000418160:L33V	.|ENSP00000376506:L33V	A|L	-|-	2|1	0|2	PDCD10|PDCD10	168905377|168905377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.117000|5.117000	0.64667|0.64667	1.417000|1.417000	0.47077|0.47077	0.650000|0.650000	0.86243|0.86243	GCT|CTA		0.333	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217	Missense_Mutation	13	62	0	0	0	1	0	13	62				
SNHG14	104472715	broad.mit.edu	37	15	25417689	25417689	+	RNA	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:25417689C>G	ENST00000441592.2	+	0	0				SNORD115-3_ENST00000363100.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAAGCTCAGCCCTCCCTGGC	0.637																																						ENST00000549301.1																			0																																																			104472715							g.chr15:25417689C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417689C>G						SNHG14_ENST00000553149.1_RNA								0	467	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.637	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			5	77	0	0	0	1	0	5	77				
SLC9C1	285335	broad.mit.edu	37	3	111988789	111988789	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:111988789G>A	ENST00000305815.5	-	7	1001	c.749C>T	c.(748-750)tCa>tTa	p.S250L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S250L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	250					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATACAGAATTGAAAAGATGAG	0.284																																						ENST00000305815.5																			0											c.(748-750)tCa>tTa		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							61.0	65.0	64.0					3																	111988789		2203	4296	6499	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111988789G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.749C>T	3.37:g.111988789G>A	ENSP00000306627:p.Ser250Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.S250L	p.S250L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			7	1001	-			250					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.749C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936310	0.73442	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.13657	2.57;2.57	5.9	5.9	0.94986	Cation/H+ exchanger (1);	0.250000	0.28859	N	0.013918	T	0.30572	0.0769	L	0.58101	1.795	0.36952	D	0.892914	D;D	0.71674	0.998;0.978	D;P	0.64042	0.921;0.778	T	0.03394	-1.1041	10	0.23891	T	0.37	-0.0603	15.7657	0.78126	0.0:0.0:1.0:0.0	.	250;250	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	250	ENSP00000306627:S250L;ENSP00000420688:S250L	ENSP00000306627:S250L	S	-	2	0	SLC9A10	113471479	0.998000	0.40836	0.535000	0.28026	0.643000	0.38383	5.263000	0.65507	2.799000	0.96334	0.505000	0.49811	TCA		0.284	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		52	142	0	0	0	1	0	52	142				
MROH2B	133558	broad.mit.edu	37	5	41009498	41009498	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:41009498T>C	ENST00000399564.4	-	32	3754	c.3304A>G	c.(3304-3306)Aca>Gca	p.T1102A	MROH2B_ENST00000506092.2_Missense_Mutation_p.T657A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1102																	TTCCACAATGTCTTTGTGTCC	0.478																																						ENST00000399564.4																			0											c.(3304-3306)Aca>Gca		maestro heat-like repeat family member 2B							94.0	93.0	93.0					5																	41009498		1860	4098	5958	SO:0001583	missense	133558							g.chr5:41009498T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3304A>G	5.37:g.41009498T>C	ENSP00000382476:p.Thr1102Ala					MROH2B_ENST00000506092.2_Missense_Mutation_p.T657A	p.T1102A	NM_173489.4	NP_775760.3					32	3754	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3304A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749686	0.30955	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05382	3.45;3.45	6.06	4.71	0.59529	Armadillo-type fold (1);	0.284899	0.30762	N	0.008936	T	0.04363	0.0120	N	0.25890	0.77	0.27386	N	0.955261	B	0.09022	0.002	B	0.04013	0.001	T	0.39742	-0.9599	10	0.12103	T	0.63	.	8.6846	0.34229	0.0:0.0953:0.0:0.9046	.	1102	Q7Z745	HTRB2_HUMAN	A	657;807;1102	ENSP00000441504:T657A;ENSP00000382476:T1102A	ENSP00000296803:T807A	T	-	1	0	HEATR7B2	41045255	0.981000	0.34729	0.996000	0.52242	0.968000	0.65278	1.390000	0.34464	2.324000	0.78689	0.533000	0.62120	ACA		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		32	274	0	0	0	1	0	32	274				
MAGEB18	286514	broad.mit.edu	37	X	26157128	26157128	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:26157128T>C	ENST00000325250.1	+	2	213	c.26T>C	c.(25-27)cTc>cCc	p.L9P		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	9						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGAGTAAGCTCCGTGCCCGT	0.542																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(25-27)cTc>cCc		melanoma antigen family B, 18							51.0	45.0	47.0					X																	26157128		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157128T>C	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.26T>C	X.37:g.26157128T>C	ENSP00000314543:p.Leu9Pro						p.L9P	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	213	+			9						Missense_Mutation	SNP	ENST00000325250.1	37	c.26T>C	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959705	0.34565	.	.	ENSG00000176774	ENST00000325250	T	0.05139	3.49	4.15	1.55	0.23275	Melanoma associated antigen, MAGE, N-terminal (1);	0.629404	0.13376	N	0.392498	T	0.13157	0.0319	M	0.81682	2.555	0.44402	D	0.997311	P	0.50819	0.939	P	0.51229	0.663	T	0.13388	-1.0511	10	0.34782	T	0.22	.	3.8406	0.08912	0.2206:0.0:0.2245:0.5549	.	9	Q96M61	MAGBI_HUMAN	P	9	ENSP00000314543:L9P	ENSP00000314543:L9P	L	+	2	0	MAGEB18	26067049	0.992000	0.36948	0.569000	0.28460	0.361000	0.29550	0.546000	0.23284	0.188000	0.20168	0.486000	0.48141	CTC		0.542	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	24	0	0	0	1	0	3	24				
ATXN2L	11273	broad.mit.edu	37	16	28848065	28848065	+	3'UTR	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:28848065C>T	ENST00000336783.4	+	0	3874				RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.S1058S|ATXN2L_ENST00000570200.1_Silent_p.S1052S|ATXN2L_ENST00000340394.8_Silent_p.S1034S|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000382686.4_Intron	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCATCCCTCCCAGCAGCTCC	0.587																																						ENST00000340394.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3100-3102)tcC>tcT		ataxin 2-like							135.0	115.0	121.0					16																	28848065		2197	4300	6497	SO:0001624	3_prime_UTR_variant	11273					membrane		g.chr16:28848065C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*479C>T	16.37:g.28848065C>T						ATXN2L_ENST00000564304.1_Silent_p.S1058S|ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000382686.4_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000336783.4_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.S1052S|ATXN2L_ENST00000325215.6_Intron	p.S1034S	NM_148415.2|NM_148416.2	NP_680781.1|NP_680782.1	Q8WWM7	ATX2L_HUMAN			23	3314	+			1032					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.3102C>T	CCDS10641.1																																																																																				0.587	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		19	87	0	0	0	1	0	19	87				
CHRNA4	1137	broad.mit.edu	37	20	61981080	61981080	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:61981080C>T	ENST00000370263.4	-	5	1904	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	561					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCAGGGCCGGCGACAGGGGCA	0.657																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1681-1683)tcG>tcA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						34.0	43.0	40.0					20																	61981080		2198	4299	6497	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981080C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1683G>A	20.37:g.61981080C>T						CHRNA4_ENST00000463705.1_5'UTR	p.S561S	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1904	-	all_cancers(38;1.71e-10)		561					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1683G>A	CCDS13517.1																																																																																				0.657	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	136	0	0	0	1	0	14	136				
TMOD4	29765	broad.mit.edu	37	1	151146953	151146953	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:151146953C>A	ENST00000416280.2	-	3	293	c.194G>T	c.(193-195)cGa>cTa	p.R65L	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGGCCTCTCGGTCCAGTGG	0.547																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(193-195)cGa>cTa		tropomodulin 4 (muscle)							178.0	172.0	174.0					1																	151146953		2203	4300	6503	SO:0001583	missense	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151146953C>A	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.194G>T	1.37:g.151146953C>A	ENSP00000414180:p.Arg65Leu						p.R65L			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	293	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		117					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Missense_Mutation	SNP	ENST00000416280.2	37	c.194G>T		.	.	.	.	.	.	.	.	.	.	.	34	5.334671	0.95758	.	.	ENSG00000163157	ENST00000295314;ENST00000416280;ENST00000441701	T;T;T	0.53423	0.62;0.62;0.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	T	0.77718	-0.2483	10	0.87932	D	0	-8.9008	18.5767	0.91157	0.0:1.0:0.0:0.0	.	65;65	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	L	65	ENSP00000295314:R65L;ENSP00000414180:R65L;ENSP00000406333:R65L	ENSP00000295314:R65L	R	-	2	0	TMOD4	149413577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.617000	0.83032	2.688000	0.91661	0.561000	0.74099	CGA		0.547	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				58	221	1	0	5.82089e-37	1	6.49438e-37	58	221				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(574-576)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	32	0	0	0	1	0	37	32				
UGT2A3	79799	broad.mit.edu	37	4	69795744	69795744	+	Silent	SNP	T	T	C	rs112675774		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795744T>C	ENST00000251566.4	-	6	1401	c.1371A>G	c.(1369-1371)cgA>cgG	p.R457R	UGT2A3_ENST00000420231.2_Silent_p.R168R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGACTGCTCGATCTAGGG	0.453																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1369-1371)cgA>cgG		UDP glucuronosyltransferase 2 family, polypeptide A3							96.0	99.0	98.0					4																	69795744		2203	4300	6503	SO:0001819	synonymous_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795744T>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1371A>G	4.37:g.69795744T>C						UGT2A3_ENST00000420231.2_Silent_p.R168R	p.R457R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1401	-			457					Q9H6S4	Silent	SNP	ENST00000251566.4	37	c.1371A>G	CCDS3525.1																																																																																				0.453	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		6	217	0	0	0	1	0	6	217				
ZBTB11	27107	broad.mit.edu	37	3	101395454	101395454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:101395454C>T	ENST00000312938.4	-	1	885	c.305G>A	c.(304-306)tGg>tAg	p.W102*	ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.W102*|ZBTB11-AS1_ENST00000609682.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCACCTCGCCACCAGTACGT	0.697																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(304-306)tGg>tAg		zinc finger and BTB domain containing 11							21.0	22.0	22.0					3																	101395454		2201	4297	6498	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101395454C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.305G>A	3.37:g.101395454C>T	ENSP00000326200:p.Trp102*					ZBTB11-AS1_ENST00000536865.1_5'UTR|ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.W102*	p.W102*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			1	885	-			102					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.305G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871981	0.97901	.	.	ENSG00000066422	ENST00000312938;ENST00000461821	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0799	18.2339	0.89944	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000326200:W102X	W	-	2	0	ZBTB11	102878144	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.140000	0.77322	2.309000	0.77851	0.467000	0.42956	TGG		0.697	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		9	12	0	0	0	1	0	9	12				
SYCP1	6847	broad.mit.edu	37	1	115398159	115398159	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:115398159C>T	ENST00000369522.3	+	2	314	c.74C>T	c.(73-75)cCt>cTt	p.P25L	SYCP1_ENST00000369518.1_Missense_Mutation_p.P25L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	25	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGTGAAACCTCAGACCCTG	0.418																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(73-75)cCt>cTt		synaptonemal complex protein 1							79.0	78.0	78.0					1																	115398159		2203	4300	6503	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115398159C>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.74C>T	1.37:g.115398159C>T	ENSP00000358535:p.Pro25Leu					SYCP1_ENST00000369518.1_Missense_Mutation_p.P25L	p.P25L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	314	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	25			Asp/Glu-rich (acidic).		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.74C>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271947	0.80469	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.71103	0.01;-0.54;0.01	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78201	-0.2296	10	0.87932	D	0	-6.7073	18.2802	0.90096	0.0:1.0:0.0:0.0	.	25;25	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	25	ENSP00000358535:P25L;ENSP00000410011:P25L;ENSP00000358531:P25L	ENSP00000358531:P25L	P	+	2	0	SYCP1	115199682	1.000000	0.71417	0.997000	0.53966	0.639000	0.38242	6.100000	0.71473	2.400000	0.81607	0.561000	0.74099	CCT		0.418	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	21	0	0	0	1	0	12	21				
SETD7	80854	broad.mit.edu	37	4	140454503	140454503	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:140454503T>C	ENST00000274031.3	-	3	824	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	SETD7_ENST00000406354.1_Missense_Mutation_p.M46V|SETD7_ENST00000404104.3_Missense_Mutation_p.Y63C|SETD7_ENST00000506866.2_Missense_Mutation_p.Y63C	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	63					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATCATCCACATAATACCCCTC	0.498																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(187-189)tAt>tGt		SET domain containing (lysine methyltransferase) 7							53.0	48.0	50.0					4																	140454503		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140454503T>C	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.188A>G	4.37:g.140454503T>C	ENSP00000274031:p.Tyr63Cys					SETD7_ENST00000406354.1_Missense_Mutation_p.M46V|SETD7_ENST00000506866.2_Missense_Mutation_p.Y63C|SETD7_ENST00000404104.3_Missense_Mutation_p.Y63C	p.Y63C	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			3	824	-	all_hematologic(180;0.156)		63					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.188A>G	CCDS3748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.643|6.643	0.487036|0.487036	0.12641|0.12641	.|.	.|.	ENSG00000145391|ENSG00000145391	ENST00000406354|ENST00000506866;ENST00000274031;ENST00000404104	.|T;T;T	.|0.56444	.|0.46;0.46;0.46	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.054252	.|0.85682	.|D	.|0.000000	T|T	0.75361|0.75361	0.3839|0.3839	M|M	0.84846|0.84846	2.72|2.72	0.29603|0.29603	N|N	0.847509|0.847509	.|D;D	.|0.89917	.|1.0;0.996	.|D;P	.|0.70487	.|0.969;0.851	T|T	0.76462|0.76462	-0.2950|-0.2950	6|10	0.87932|0.87932	D|D	0|0	-22.7113|-22.7113	16.1946|16.1946	0.82018|0.82018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|63;63	.|B5MCZ8;Q8WTS6	.|.;SETD7_HUMAN	V|C	46|63	.|ENSP00000427300:Y63C;ENSP00000274031:Y63C;ENSP00000385913:Y63C	ENSP00000384336:M46V|ENSP00000274031:Y63C	M|Y	-|-	1|2	0|0	SETD7|SETD7	140673953|140673953	1.000000|1.000000	0.71417|0.71417	0.066000|0.066000	0.19879|0.19879	0.138000|0.138000	0.21146|0.21146	5.761000|5.761000	0.68801|0.68801	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.498	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		29	20	0	0	0	1	0	29	20				
TMC2	117532	broad.mit.edu	37	20	2593924	2593924	+	Missense_Mutation	SNP	C	C	T	rs138165699		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:2593924C>T	ENST00000358864.1	+	14	1843	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	610					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGTTTTGTGCGGTTCATGAA	0.498																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1828-1830)Cgg>Tgg		transmembrane channel-like 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	211.0	165.0	180.0		1828	3.9	1.0	20	dbSNP_134	180	0,8600		0,0,4300	no	missense	TMC2	NM_080751.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	610/907	2593924	1,13005	2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2593924C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1828C>T	20.37:g.2593924C>T	ENSP00000351732:p.Arg610Trp					TMC2_ENST00000496948.1_3'UTR	p.R610W	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			14	1843	+			610					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1828C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231455	0.79688	2.27E-4	0.0	ENSG00000149488	ENST00000358864	T	0.65732	-0.17	4.93	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.85630	2.765	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82194	-0.0578	10	0.87932	D	0	-17.5719	11.818	0.52222	0.2126:0.7874:0.0:0.0	.	441;442;610;610	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	W	610	ENSP00000351732:R610W	ENSP00000351732:R610W	R	+	1	2	TMC2	2541924	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.052000	0.49893	2.460000	0.83146	0.655000	0.94253	CGG		0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			4	127	0	0	0	1	0	4	127				
ZNF700	90592	broad.mit.edu	37	19	12060899	12060899	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:12060899C>T	ENST00000254321.5	+	4	2203	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.S669F|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGATTCACATCTGCCAAGATT	0.363																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(2005-2007)tCt>tTt		zinc finger protein 700							93.0	84.0	87.0					19																	12060899		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060899C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2060C>T	19.37:g.12060899C>T	ENSP00000254321:p.Ser687Phe					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S687F|ZNF763_ENST00000590798.1_Intron	p.S669F			Q9H0M5	ZN700_HUMAN			3	2424	+			687					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.2006C>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.099	-1.154799	0.01700	.	.	ENSG00000196757	ENST00000254321	T	0.20463	2.07	0.808	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	D	0.61697	0.99	P	0.59357	0.856	T	0.10894	-1.0610	9	0.10377	T	0.69	.	1.0241	0.01524	0.214:0.4002:0.2129:0.173	.	687	Q9H0M5	ZN700_HUMAN	F	687	ENSP00000254321:S687F	ENSP00000254321:S687F	S	+	2	0	ZNF700	11921899	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.531000	0.00440	-0.840000	0.04206	-0.379000	0.06801	TCT		0.363	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		22	79	0	0	0	1	0	22	79				
PAX2	5076	broad.mit.edu	37	10	102586776	102586776	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:102586776C>T	ENST00000428433.1	+	10	1651	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PAX2_ENST00000361791.3_Missense_Mutation_p.S372F|PAX2_ENST00000370296.2_Missense_Mutation_p.S395F|PAX2_ENST00000556085.1_Silent_p.F343F|PAX2_ENST00000355243.3_Silent_p.F344F	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	367					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGAGCGAGTTCTCCGGCAACC	0.677																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1183-1185)tCt>tTt		paired box 2							53.0	46.0	48.0					10																	102586776		2203	4300	6503	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102586776C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1101C>T	10.37:g.102586776C>T						PAX2_ENST00000428433.1_Silent_p.F367F|PAX2_ENST00000361791.3_Missense_Mutation_p.S372F|PAX2_ENST00000355243.3_Silent_p.F344F|PAX2_ENST00000556085.1_Silent_p.F343F	p.S395F			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	11	1734	+		Colorectal(252;0.234)	0					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.1184C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998638	0.35226	.	.	ENSG00000075891	ENST00000370296;ENST00000361791	D;D	0.96967	-4.11;-4.19	4.07	1.09	0.20402	.	0.124363	0.56097	N	0.000029	D	0.90249	0.6951	.	.	.	0.36639	D	0.876725	B	0.02656	0.0	B	0.04013	0.001	T	0.83259	-0.0049	8	.	.	.	.	6.9356	0.24464	0.0:0.6968:0.0:0.3032	.	372	Q02962-4	.	F	395;372	ENSP00000359319:S395F;ENSP00000355069:S372F	.	S	+	2	0	PAX2	102576766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.119000	0.50422	0.682000	0.31407	0.442000	0.29010	TCT		0.677	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				16	39	0	0	0	1	0	16	39				
TMEM183A	92703	broad.mit.edu	37	1	202977833	202977833	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:202977833G>A	ENST00000367242.3	+	3	342	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	88						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTCTGGGGCTGGTGAGCCCTG	0.473																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(262-264)Ggt>Agt		transmembrane protein 183A							54.0	59.0	58.0					1																	202977833		2203	4300	6503	SO:0001583	missense	92703							g.chr1:202977833G>A	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.262G>A	1.37:g.202977833G>A	ENSP00000356211:p.Gly88Ser					TMEM183A_ENST00000468449.1_3'UTR	p.G88S	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		3	342	+								A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.262G>A	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554738	0.45487	.	.	ENSG00000163444	ENST00000367242	T	0.22539	1.95	4.84	4.84	0.62591	.	0.298737	0.36665	N	0.002465	T	0.15869	0.0382	N	0.22421	0.69	0.39247	D	0.963963	B;B;B;B	0.28998	0.23;0.094;0.093;0.093	B;B;B;B	0.28784	0.094;0.056;0.047;0.047	T	0.08994	-1.0695	10	0.38643	T	0.18	-9.1469	14.6792	0.69004	0.0:0.0:1.0:0.0	.	88;88;88;88	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	S	88	ENSP00000356211:G88S	ENSP00000356211:G88S	G	+	1	0	TMEM183A	201244456	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	4.489000	0.60309	2.223000	0.72356	0.462000	0.41574	GGT		0.473	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		9	96	0	0	0	1	0	9	96				
KMT2D	8085	broad.mit.edu	37	12	49427983	49427983	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:49427983C>T	ENST00000301067.7	-	38	10606	c.10607G>A	c.(10606-10608)cGc>cAc	p.R3536H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3536	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGGACTTGCGGTGTACACC	0.557																																						ENST00000301067.7																			0											c.(10606-10608)cGc>cAc		lysine (K)-specific methyltransferase 2D							105.0	104.0	104.0					12																	49427983		2027	4198	6225	SO:0001583	missense	8085							g.chr12:49427983C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10607G>A	12.37:g.49427983C>T	ENSP00000301067:p.Arg3536His						p.R3536H	NM_003482.3	NP_003473.3					38	10606	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10607G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560000	0.45590	.	.	ENSG00000167548	ENST00000301067	T	0.40476	1.03	5.38	5.38	0.77491	.	0.000000	0.37304	N	0.002144	T	0.62048	0.2396	L	0.54323	1.7	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3536	O14686	MLL2_HUMAN	H	3536	ENSP00000301067:R3536H	ENSP00000301067:R3536H	R	-	2	0	MLL2	47714250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	CGC		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	171	0	0	0	1	0	5	171				
ESCO1	114799	broad.mit.edu	37	18	19153390	19153390	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr18:19153390A>T	ENST00000269214.5	-	4	2352	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	472					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGTTTTATTAATTTCTACTGT	0.318																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1414-1416)aTt>aAt		establishment of sister chromatid cohesion N-acetyltransferase 1							52.0	51.0	51.0					18																	19153390		2203	4298	6501	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153390A>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1415T>A	18.37:g.19153390A>T	ENSP00000269214:p.Ile472Asn						p.I472N	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2352	-			472					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1415T>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796621	0.31777	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.58358	0.34;1.9	5.68	-1.16	0.09678	.	0.777035	0.11773	N	0.530970	T	0.35653	0.0939	L	0.47716	1.5	0.09310	N	0.999997	B	0.28128	0.201	B	0.21360	0.034	T	0.19712	-1.0297	10	0.16420	T	0.52	-23.7353	5.5479	0.17073	0.4369:0.0:0.3809:0.1822	.	472	Q5FWF5	ESCO1_HUMAN	N	472	ENSP00000269214:I472N;ENSP00000372763:I472N	ENSP00000269214:I472N	I	-	2	0	ESCO1	17407388	0.961000	0.32948	0.995000	0.50966	0.871000	0.50021	0.501000	0.22578	0.123000	0.18342	0.533000	0.62120	ATT		0.318	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		62	130	0	0	0	1	0	62	130				
MAN2A2	4122	broad.mit.edu	37	15	91456856	91456856	+	Missense_Mutation	SNP	C	C	T	rs535498138		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:91456856C>T	ENST00000559717.1	+	19	3190	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R419W|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R101W|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R911W			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	911					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCCCCGACGGTATCTGAA	0.627																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2731-2733)Cgg>Tgg		mannosidase, alpha, class 2A, member 2							39.0	35.0	36.0					15																	91456856		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91456856C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2731C>T	15.37:g.91456856C>T	ENSP00000452948:p.Arg911Trp					MAN2A2_ENST00000430376.2_Missense_Mutation_p.R101W|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R419W|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R911W	p.R911W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		18	2749	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		911					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2731C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985511	0.53934	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;T;T	0.79141	-1.24;-1.24;-1.24	4.97	1.92	0.25849	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.066712	0.64402	D	0.000010	D	0.85617	0.5738	M	0.79258	2.445	0.51767	D	0.999933	D;D;D	0.69078	0.997;0.995;0.987	P;P;P	0.62382	0.901;0.893;0.893	D	0.86525	0.1818	10	0.72032	D	0.01	-23.9122	14.3511	0.66702	0.6133:0.3867:0.0:0.0	.	419;539;911	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	W	911;419;101	ENSP00000353655:R911W;ENSP00000388221:R419W;ENSP00000394372:R101W	ENSP00000353655:R911W	R	+	1	2	MAN2A2	89257860	0.971000	0.33674	0.994000	0.49952	0.416000	0.31233	0.310000	0.19356	0.238000	0.21222	0.555000	0.69702	CGG		0.627	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		8	16	0	0	0	1	0	8	16				
CALB1	793	broad.mit.edu	37	8	91094274	91094274	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr8:91094274C>A	ENST00000265431.3	-	2	317	c.136G>T	c.(136-138)Gcg>Tcg	p.A46S	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTCGCGCCTGCTGGAGC	0.443																																					Melanoma(46;573 1182 27367 39727 48386)	ENST00000265431.3																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.(136-138)Gcg>Tcg		calbindin 1, 28kDa							114.0	121.0	118.0					8																	91094274		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91094274C>A		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.136G>T	8.37:g.91094274C>A	ENSP00000265431:p.Ala46Ser						p.A46S	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		2	317	-			46			EF-hand 1.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.136G>T	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774534	0.70107	.	.	ENSG00000104327	ENST00000265431	D	0.90069	-2.61	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	L	0.28192	0.835	0.80722	D	1	B	0.30068	0.267	P	0.48089	0.566	T	0.79694	-0.1696	10	0.06099	T	0.92	-11.4282	16.6292	0.85029	0.0:1.0:0.0:0.0	.	46	P05937	CALB1_HUMAN	S	46	ENSP00000265431:A46S	ENSP00000265431:A46S	A	-	1	0	CALB1	91163450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.053000	0.64269	2.744000	0.94065	0.563000	0.77884	GCG		0.443	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		10	317	1	0	5.50884e-06	1	5.72072e-06	10	317				
ASPSCR1	79058	broad.mit.edu	37	17	79973059	79973059	+	Intron	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79973059G>A	ENST00000306739.4	+	13	1450				ASPSCR1_ENST00000306729.7_Missense_Mutation_p.V488M|ASPSCR1_ENST00000580534.1_Intron	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGAGGCGACGTGGACTCTGG	0.627			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(1462-1464)Gtg>Atg		alveolar soft part sarcoma chromosome region, candidate 1							85.0	86.0	86.0					17																	79973059		876	1990	2866	SO:0001627	intron_variant	79058						protein binding	g.chr17:79973059G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1354-1293G>A	17.37:g.79973059G>A						ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron	p.V488M	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		13	1559	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		488					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.1462G>A	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611713	0.14066	.	.	ENSG00000169696	ENST00000306729	T	0.27256	1.68	0.53	-1.06	0.10002	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.09310	N	0.999999	B	0.11235	0.004	B	0.04013	0.001	T	0.31586	-0.9938	6	.	.	.	.	.	.	.	.	488	Q9BZE9-2	.	M	488	ENSP00000306625:V488M	.	V	+	1	0	ASPSCR1	77566348	0.000000	0.05858	0.010000	0.14722	0.064000	0.16182	-0.354000	0.07681	-1.254000	0.02485	-1.021000	0.02439	GTG		0.627	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		20	93	0	0	0	1	0	20	93				
LHFPL1	340596	broad.mit.edu	37	X	111914239	111914239	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:111914239C>T	ENST00000371968.3	-	2	619	c.380G>A	c.(379-381)gGa>gAa	p.G127E	LHFPL1_ENST00000536453.1_Missense_Mutation_p.G127E|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGTCTTACCTCCAACAAACTG	0.572																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(379-381)gGa>gAa		lipoma HMGIC fusion partner-like 1							79.0	60.0	67.0					X																	111914239		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914239C>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.380G>A	X.37:g.111914239C>T	ENSP00000361036:p.Gly127Glu					LHFPL1_ENST00000536453.1_Missense_Mutation_p.G127E|LHFPL1_ENST00000478229.1_Intron	p.G127E	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	619	-			127					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.380G>A	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449071	0.63178	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.72835	-0.69;-0.69	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	M	0.76838	2.35	0.33890	D	0.637199	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.89551	0.3799	10	0.87932	D	0	-22.1664	14.7694	0.69665	0.0:1.0:0.0:0.0	.	127;127	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	E	127	ENSP00000361036:G127E;ENSP00000444573:G127E	ENSP00000361036:G127E	G	-	2	0	LHFPL1	111800895	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.320000	0.79064	2.365000	0.80145	0.600000	0.82982	GGA		0.572	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		7	54	0	0	0	1	0	7	54				
SALL1	6299	broad.mit.edu	37	16	51175091	51175091	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:51175091C>T	ENST00000251020.4	-	2	1075	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	SALL1_ENST00000440970.1_Missense_Mutation_p.V251I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	348					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGTGGTAACTGCCGCTGCC	0.532																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(751-753)Gtt>Att		spalt-like transcription factor 1							72.0	78.0	76.0					16																	51175091		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175091C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1042G>A	16.37:g.51175091C>T	ENSP00000251020:p.Val348Ile					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V348I	p.V251I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1182	-		all_cancers(37;0.0322)	348					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.751G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715490	0.30413	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06068	3.37;3.35	4.52	4.52	0.55395	.	0.241957	0.42420	D	0.000711	T	0.07638	0.0192	L	0.44542	1.39	0.58432	D	0.99999	B	0.31383	0.321	B	0.28011	0.085	T	0.34825	-0.9813	10	0.27785	T	0.31	.	17.4196	0.87511	0.0:1.0:0.0:0.0	.	348	Q9NSC2	SALL1_HUMAN	I	348;251;312	ENSP00000251020:V348I;ENSP00000407914:V251I	ENSP00000251020:V348I	V	-	1	0	SALL1	49732592	1.000000	0.71417	0.132000	0.22025	0.972000	0.66771	3.192000	0.50989	2.317000	0.78254	0.462000	0.41574	GTT		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		29	130	0	0	0	1	0	29	130				
GPRIN3	285513	broad.mit.edu	37	4	90168949	90168949	+	Silent	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:90168949C>A	ENST00000609438.1	-	2	2831	c.2313G>T	c.(2311-2313)ccG>ccT	p.P771P	GPRIN3_ENST00000333209.4_Silent_p.P771P	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	771										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACACAGAAGACGGGGCAGGAC	0.453																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(2311-2313)ccG>ccT		GPRIN family member 3							93.0	99.0	97.0					4																	90168949		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90168949C>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2313G>T	4.37:g.90168949C>A							p.P771P	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2831	-		Hepatocellular(203;0.114)	771					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.2313G>T	CCDS34030.1																																																																																				0.453	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	134	1	0	0.000157383	1	0.000162189	6	134				
CHPT1	56994	broad.mit.edu	37	12	102117511	102117511	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:102117511G>T	ENST00000229266.3	+	7	1186	c.951G>T	c.(949-951)atG>atT	p.M317I	CHPT1_ENST00000549872.1_Missense_Mutation_p.M317I	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	317					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGCTCACATGACCAAAAGTG	0.274																																						ENST00000549872.1																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(949-951)atG>atT		choline phosphotransferase 1							67.0	66.0	66.0					12																	102117511		2196	4291	6487	SO:0001583	missense	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102117511G>T		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.951G>T	12.37:g.102117511G>T	ENSP00000229266:p.Met317Ile					CHPT1_ENST00000229266.3_Missense_Mutation_p.M317I	p.M317I			Q8WUD6	CHPT1_HUMAN			7	1141	+			317					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	c.951G>T	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394897	0.25205	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.50277	0.77;0.75	5.82	4.9	0.64082	.	0.035669	0.85682	D	0.000000	T	0.50222	0.1603	M	0.72894	2.215	0.80722	D	1	P;P	0.45672	0.635;0.864	B;B	0.42214	0.263;0.38	T	0.54801	-0.8239	10	0.48119	T	0.1	-15.783	13.9361	0.64026	0.0767:0.0:0.9233:0.0	.	317;317	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	I	317;317;150	ENSP00000229266:M317I;ENSP00000448766:M317I	ENSP00000229266:M317I	M	+	3	0	CHPT1	100641642	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.496000	0.81526	1.384000	0.46424	-0.355000	0.07637	ATG		0.274	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		4	37	1	0	0.00024832	1	0.000253964	4	37				
BPIFB2	80341	broad.mit.edu	37	20	31607497	31607497	+	Missense_Mutation	SNP	G	G	A	rs577746368		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:31607497G>A	ENST00000170150.3	+	11	1216	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	341						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCAGCCCTTCGTGGAGGTCCT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17413	0.001		0.0	False		,,,				2504	0.0					ENST00000170150.3																			0											c.(1021-1023)Gtg>Atg		BPI fold containing family B, member 2							43.0	41.0	42.0					20																	31607497		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31607497G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1021G>A	20.37:g.31607497G>A	ENSP00000170150:p.Val341Met						p.V341M	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			11	1216	+			341					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1021G>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193138	0.58017	.	.	ENSG00000078898	ENST00000170150	T	0.10099	2.91	4.98	0.618	0.17624	.	0.340826	0.21887	N	0.067641	T	0.16727	0.0402	L	0.56769	1.78	0.21416	N	0.999695	D	0.59357	0.985	P	0.55923	0.787	T	0.04413	-1.0953	10	0.72032	D	0.01	-7.8335	4.323	0.11027	0.2623:0.1741:0.5636:0.0	.	341	Q8N4F0	BPIB2_HUMAN	M	341	ENSP00000170150:V341M	ENSP00000170150:V341M	V	+	1	0	BPIFB2	31071158	0.528000	0.26314	0.566000	0.28421	0.817000	0.46193	0.578000	0.23773	0.608000	0.30000	0.561000	0.74099	GTG		0.642	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		8	38	0	0	0	1	0	8	38				
ANKRD30A	91074	broad.mit.edu	37	10	37418911	37418911	+	Silent	SNP	C	C	T	rs369569719		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:37418911C>T	ENST00000602533.1	+	2	243	c.144C>T	c.(142-144)ggC>ggT	p.G48G	ANKRD30A_ENST00000361713.1_Silent_p.G48G|ANKRD30A_ENST00000374660.1_Silent_p.G48G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	104					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTTGATGGCGAACACAGGA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		13452	0.001		0.0	False		,,,				2504	0.0					ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(142-144)ggC>ggT		ankyrin repeat domain 30A		T		0,3802		0,0,1901	52.0	49.0	50.0		144	-4.0	0.0	10		50	1,8247		0,1,4123	no	coding-synonymous	ANKRD30A	NM_052997.2		0,1,6024	TT,TC,CC		0.0121,0.0,0.0083		48/1342	37418911	1,12049	1901	4124	6025	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37418911C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.144C>T	10.37:g.37418911C>T						ANKRD30A_ENST00000602533.1_Silent_p.G48G|ANKRD30A_ENST00000361713.1_Silent_p.G48G	p.G48G			Q9BXX3	AN30A_HUMAN			2	243	+			104					Q5W025	Silent	SNP	ENST00000602533.1	37	c.144C>T																																																																																					0.418	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		13	54	0	0	0	1	0	13	54				
CHMP3	51652	broad.mit.edu	37	2	86756512	86756512	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:86756512T>C	ENST00000263856.4	-	3	243	c.115A>G	c.(115-117)Aga>Gga	p.R39G	CHMP3_ENST00000409225.2_5'UTR|CHMP3_ENST00000439940.2_Missense_Mutation_p.R68G|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R68G|CHMP3_ENST00000409727.1_Missense_Mutation_p.R39G	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	39	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											TCTTCTTCTCTTTGGATATCT	0.373																																						ENST00000263856.4																			0											c.(115-117)Aga>Gga		charged multivesicular body protein 3							111.0	109.0	110.0					2																	86756512		2203	4300	6503	SO:0001583	missense	51652							g.chr2:86756512T>C	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.115A>G	2.37:g.86756512T>C	ENSP00000263856:p.Arg39Gly					RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R68G|CHMP3_ENST00000439940.2_Missense_Mutation_p.R68G|CHMP3_ENST00000409727.1_Missense_Mutation_p.R39G|CHMP3_ENST00000409225.2_5'UTR	p.R39G	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					3	243	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	c.115A>G	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325322	0.60743	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.90504	-0.67;-2.68;-0.67;-0.67	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.85462	2.755	0.80722	D	1	B;D;B	0.76494	0.244;0.999;0.096	B;D;B	0.80764	0.232;0.994;0.139	D	0.94470	0.7684	10	0.35671	T	0.21	-19.0637	13.0434	0.58913	0.0:0.0:0.134:0.866	.	68;39;39	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	G	39;39;68;146	ENSP00000263856:R39G;ENSP00000387045:R39G;ENSP00000405575:R68G;ENSP00000392995:R146G	ENSP00000392995:R146G	R	-	1	2	VPS24;RNF103-VPS24	86610023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.050000	0.57404	2.324000	0.78689	0.533000	0.62120	AGA		0.373	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		24	54	0	0	0	1	0	24	54				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	92	0	0	0	1	0	5	92				
PROM1	8842	broad.mit.edu	37	4	15995643	15995643	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:15995643G>A	ENST00000510224.1	-	16	1982	c.1734C>T	c.(1732-1734)agC>agT	p.S578S	PROM1_ENST00000540805.1_Silent_p.S578S|PROM1_ENST00000447510.2_Silent_p.S578S|PROM1_ENST00000539194.1_Silent_p.S578S|PROM1_ENST00000505450.1_Silent_p.S569S|PROM1_ENST00000543373.1_Silent_p.S569S|PROM1_ENST00000508167.1_Silent_p.S569S			O43490	PROM1_HUMAN	prominin 1	578					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGATATTGAAGCTGTTCTGCA	0.398																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1705-1707)agC>agT		prominin 1							230.0	228.0	229.0					4																	15995643		1918	4137	6055	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995643G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1734C>T	4.37:g.15995643G>A						PROM1_ENST00000539194.1_Silent_p.S578S|PROM1_ENST00000543373.1_Silent_p.S569S|PROM1_ENST00000508167.1_Silent_p.S569S|PROM1_ENST00000510224.1_Silent_p.S578S|PROM1_ENST00000540805.1_Silent_p.S578S|PROM1_ENST00000447510.2_Silent_p.S578S	p.S569S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2319	-			578					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.1707C>T	CCDS47029.1																																																																																				0.398	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		4	121	0	0	0	1	0	4	121				
SYTL5	94122	broad.mit.edu	37	X	37965888	37965888	+	Missense_Mutation	SNP	G	G	C	rs375595402		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:37965888G>C	ENST00000357972.5	+	11	1744	c.1198G>C	c.(1198-1200)Gac>Cac	p.D400H	SYTL5_ENST00000456733.2_Missense_Mutation_p.D422H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D400H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	400					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGAAACGGGAGACTATGGCAA	0.413																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1198-1200)Gac>Cac		synaptotagmin-like 5							204.0	162.0	176.0					X																	37965888		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37965888G>C		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1198G>C	X.37:g.37965888G>C	ENSP00000350657:p.Asp400His					SYTL5_ENST00000456733.2_Missense_Mutation_p.D422H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D400H	p.D400H			Q8TDW5	SYTL5_HUMAN			11	1744	+			400					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1198G>C	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771077	0.90108	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09445	2.98;2.98;2.98	5.71	5.71	0.89125	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	T	0.16070	-1.0415	10	0.87932	D	0	-3.4485	18.8337	0.92151	0.0:0.0:1.0:0.0	.	422;400	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	H	400;400;422	ENSP00000297875:D400H;ENSP00000350657:D400H;ENSP00000395220:D422H	ENSP00000297875:D400H	D	+	1	0	SYTL5	37850832	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.429000	0.97481	2.394000	0.81467	0.594000	0.82650	GAC		0.413	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		27	26	0	0	0	1	0	27	26				
CTNNA2	1496	broad.mit.edu	37	2	80085145	80085145	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:80085145C>T	ENST00000402739.4	+	3	310	c.305C>T	c.(304-306)aCg>aTg	p.T102M	CTNNA2_ENST00000466387.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T136M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T102M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGGTGAGACGATGCGGATC	0.547																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(304-306)aCg>aTg		catenin (cadherin-associated protein), alpha 2							89.0	87.0	87.0					2																	80085145		2035	4186	6221	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085145C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.305C>T	2.37:g.80085145C>T	ENSP00000384638:p.Thr102Met					CTNNA2_ENST00000496558.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T136M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T102M	p.T102M			P26232	CTNA2_HUMAN			8	1029	+			102					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.305C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.584039	0.86748	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.67	5.67	0.87782	.	0.059088	0.64402	D	0.000002	T	0.46889	0.1416	M	0.65975	2.015	0.80722	D	1	D;P;P	0.55385	0.971;0.934;0.934	P;B;B	0.46237	0.508;0.379;0.288	T	0.46938	-0.9155	10	0.49607	T	0.09	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	102;102;102	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	102;102;102;136;102;102;102	ENSP00000418191:T102M;ENSP00000419295:T102M;ENSP00000387073:T102M;ENSP00000355398:T136M;ENSP00000384638:T102M;ENSP00000444675:T102M;ENSP00000441705:T102M	ENSP00000355398:T136M	T	+	2	0	CTNNA2	79938653	1.000000	0.71417	0.975000	0.42487	0.829000	0.46940	6.092000	0.71414	2.677000	0.91161	0.655000	0.94253	ACG		0.547	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		68	120	0	0	0	1	0	68	120				
GPR112	139378	broad.mit.edu	37	X	135431039	135431039	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:135431039C>T	ENST00000394143.1	+	6	5465	c.5174C>T	c.(5173-5175)tCc>tTc	p.S1725F	GPR112_ENST00000394141.1_Missense_Mutation_p.S1520F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1520F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1662F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1725F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1725					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAACAGGTCCCTATCTACT	0.418																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5173-5175)tCc>tTc		G protein-coupled receptor 112							130.0	121.0	124.0					X																	135431039		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431039C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5174C>T	X.37:g.135431039C>T	ENSP00000377699:p.Ser1725Phe					GPR112_ENST00000412101.1_Missense_Mutation_p.S1520F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1520F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1725F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1662F	p.S1725F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5465	+	Acute lymphoblastic leukemia(192;0.000127)		1725					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5174C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	6.746	0.506385	0.12883	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37584	1.23;1.23;1.19;1.32;1.19	3.47	1.59	0.23543	.	.	.	.	.	T	0.40839	0.1133	L	0.29908	0.895	0.09310	N	1	D;B;B	0.69078	0.997;0.011;0.014	D;B;B	0.78314	0.991;0.007;0.007	T	0.14035	-1.0487	9	0.44086	T	0.13	.	4.7918	0.13252	0.0:0.6834:0.0:0.3166	.	1662;1520;1725	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1725;1725;1520;1662;1520	ENSP00000377699:S1725F;ENSP00000359686:S1725F;ENSP00000416526:S1520F;ENSP00000287534:S1662F;ENSP00000377697:S1520F	ENSP00000287534:S1662F	S	+	2	0	GPR112	135258705	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.225000	0.17757	0.448000	0.26722	0.519000	0.50382	TCC		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			42	90	0	0	0	1	0	42	90				
ABCB11	8647	broad.mit.edu	37	2	169801270	169801270	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:169801270C>T	ENST00000263817.6	-	21	2579	c.2455G>A	c.(2455-2457)Gcc>Acc	p.A819T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTAGCAAAGGCATATCCCTAA	0.363																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2455-2457)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						76.0	68.0	70.0					2																	169801270		1820	4083	5903	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801270C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2455G>A	2.37:g.169801270C>T	ENSP00000263817:p.Ala819Thr						p.A819T	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			21	2579	-			819			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2455G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	4.467	0.086462	0.08583	.	.	ENSG00000073734	ENST00000263817	D	0.89050	-2.46	5.96	3.79	0.43588	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.303456	0.40302	N	0.001140	T	0.76933	0.4057	N	0.25890	0.77	0.36494	D	0.868592	B;B	0.06786	0.0;0.001	B;B	0.13407	0.006;0.009	T	0.65693	-0.6106	10	0.02654	T	1	.	7.4302	0.27124	0.0:0.1552:0.0:0.8448	.	261;819	B4DZQ8;O95342	.;ABCBB_HUMAN	T	819	ENSP00000263817:A819T	ENSP00000263817:A819T	A	-	1	0	ABCB11	169509516	0.990000	0.36364	0.986000	0.45419	0.985000	0.73830	1.363000	0.34159	0.611000	0.30052	0.650000	0.86243	GCC		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		5	72	0	0	0	1	0	5	72				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	69	0	0	0	1	0	4	69				
ADAMTS8	11095	broad.mit.edu	37	11	130275912	130275912	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:130275912C>T	ENST00000257359.6	-	9	2917	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCCATCAGCCGTCTTCAGCG	0.572																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2209-2211)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							83.0	84.0	84.0					11																	130275912		2118	4228	6346	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275912C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2211G>A	11.37:g.130275912C>T							p.T737T	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2917	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	737			Spacer.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2211G>A	CCDS41732.1																																																																																				0.572	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		33	139	0	0	0	1	0	33	139				
MMS22L	253714	broad.mit.edu	37	6	97621033	97621033	+	Silent	SNP	G	G	A	rs139062728		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:97621033G>A	ENST00000275053.4	-	19	3010	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	MMS22L_ENST00000369251.2_Silent_p.S875S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	915					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGTATTCCAAGGACTTTGTGA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		16019	0.0		0.001	False		,,,				2504	0.0					ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2743-2745)tcC>tcT		MMS22-like, DNA repair protein		G		0,4406		0,0,2203	61.0	64.0	63.0		2745	2.5	1.0	6	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MMS22L	NM_198468.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		915/1244	97621033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97621033G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2745C>T	6.37:g.97621033G>A						MMS22L_ENST00000369251.2_Silent_p.S875S	p.S915S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			19	3010	-			915					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.2745C>T	CCDS5039.1																																																																																				0.368	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		20	76	0	0	0	1	0	20	76				
PDK4	5166	broad.mit.edu	37	7	95221315	95221315	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:95221315G>A	ENST00000005178.5	-	6	876	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	227	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTTGTGTAAGCTTTAATTCT	0.289																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(679-681)Ctt>Ttt		pyruvate dehydrogenase kinase, isozyme 4							68.0	77.0	74.0					7																	95221315		2203	4288	6491	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95221315G>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.679C>T	7.37:g.95221315G>A	ENSP00000005178:p.Leu227Phe						p.L227F	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	876	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		227			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.679C>T	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833651	0.32421	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.34667	1.35	5.41	5.41	0.78517	ATPase-like, ATP-binding domain (2);	0.052337	0.64402	D	0.000001	T	0.39384	0.1076	M	0.71920	2.185	0.47547	D	0.999456	B	0.25486	0.127	B	0.18263	0.021	T	0.29336	-1.0015	10	0.59425	D	0.04	.	14.4102	0.67111	0.0:0.0:0.8523:0.1476	.	227	Q16654	PDK4_HUMAN	F	227;191	ENSP00000005178:L227F	ENSP00000005178:L227F	L	-	1	0	PDK4	95059251	0.974000	0.33945	1.000000	0.80357	0.860000	0.49131	1.726000	0.38085	2.710000	0.92621	0.491000	0.48974	CTT		0.289	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		9	171	0	0	0	1	0	9	171				
SACS	26278	broad.mit.edu	37	13	23905610	23905610	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:23905610T>A	ENST00000382292.3	-	9	12678	c.12405A>T	c.(12403-12405)aaA>aaT	p.K4135N	SACS_ENST00000402364.1_Missense_Mutation_p.K3385N|SACS_ENST00000382298.3_Missense_Mutation_p.K4135N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4135					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGTCAAGTTTCTCACCAA	0.388																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12403-12405)aaA>aaT		spastic ataxia of Charlevoix-Saguenay (sacsin)							111.0	112.0	112.0					13																	23905610		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905610T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12405A>T	13.37:g.23905610T>A	ENSP00000371729:p.Lys4135Asn					SACS_ENST00000402364.1_Missense_Mutation_p.K3385N|SACS_ENST00000382292.3_Missense_Mutation_p.K4135N	p.K4135N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12993	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4135					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12405A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533693	0.45073	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87887	-2.17;-2.31;-2.17	5.3	-5.77	0.02369	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.40543	1.245	0.39954	D	0.974575	D	0.67145	0.996	D	0.65010	0.931	D	0.85156	0.0989	10	0.27082	T	0.32	.	18.0236	0.89262	0.0:0.7813:0.0:0.2187	.	4135	Q9NZJ4	SACS_HUMAN	N	4135;3385;4135	ENSP00000371729:K4135N;ENSP00000385844:K3385N;ENSP00000371735:K4135N	ENSP00000371729:K4135N	K	-	3	2	SACS	22803610	0.631000	0.27164	0.946000	0.38457	0.417000	0.31264	-0.138000	0.10374	-1.151000	0.02836	-0.256000	0.11100	AAA		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		17	166	0	0	0	1	0	17	166				
APOL4	80832	broad.mit.edu	37	22	36587488	36587488	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr22:36587488A>G	ENST00000352371.1	-	6	912	c.688T>C	c.(688-690)Tct>Cct	p.S230P	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000332987.1_Missense_Mutation_p.S227P|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	231					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						AGTGCAAAAGAAAGCACATTG	0.473																																						ENST00000332987.1																			0				lung(1)	1						c.(679-681)Tct>Cct		apolipoprotein L, 4							105.0	98.0	101.0					22																	36587488		2189	4292	6481	SO:0001583	missense	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587488A>G	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.688T>C	22.37:g.36587488A>G	ENSP00000338260:p.Ser230Pro					APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.S230P	p.S227P			Q9BPW4	APOL4_HUMAN			7	1101	-			231					Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	ENST00000352371.1	37	c.679T>C		.	.	.	.	.	.	.	.	.	.	a	11.95	1.791992	0.31685	.	.	ENSG00000100336	ENST00000352371;ENST00000332987	T;T	0.03689	3.84;3.84	2.26	1.14	0.20703	.	1.127990	0.06349	N	0.709522	T	0.13628	0.0330	M	0.69463	2.115	0.09310	N	0.999993	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.974	T	0.17561	-1.0365	10	0.52906	T	0.07	.	5.0903	0.14704	0.6885:0.3115:0.0:0.0	.	231;227	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	P	230;227	ENSP00000338260:S230P;ENSP00000333229:S227P	ENSP00000333229:S227P	S	-	1	0	APOL4	34917434	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.318000	0.08050	0.279000	0.22186	0.330000	0.21533	TCT		0.473	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		28	86	0	0	0	1	0	28	86				
MUC4	4585	broad.mit.edu	37	3	195511638	195511638	+	Silent	SNP	G	G	C	rs201456042	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:195511638G>C	ENST00000463781.3	-	2	7272	c.6813C>G	c.(6811-6813)acC>acG	p.T2271T	MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)		CAGGAAGAGAGGTGGCGTGAC	0.592																																						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.(6811-6813)acC>acG		mucin 4, cell surface associated							41.0	38.0	39.0					3																	195511638		675	1585	2260	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.chr3:195511638G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6813C>G	3.37:g.195511638G>C						MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T2271T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7272	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	40					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6813C>G	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	5	0	0	0	1	0	4	5				
ZNF391	346157	broad.mit.edu	37	6	27369064	27369064	+	Silent	SNP	C	C	T	rs141811950	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:27369064C>T	ENST00000244576.4	+	3	1460	c.915C>T	c.(913-915)caC>caT	p.H305H	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAAGCCTCACGAGTGTAGAG	0.478													C|||	4	0.000798722	0.003	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0					ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(913-915)caC>caT		zinc finger protein 391		C		23,4229		0,23,2103	73.0	80.0	78.0		915	-5.7	0.0	6	dbSNP_134	78	0,8522		0,0,4261	no	coding-synonymous	ZNF391	NM_001076781.1		0,23,6364	TT,TC,CC		0.0,0.5409,0.1801		305/359	27369064	23,12751	2126	4261	6387	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369064C>T	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.915C>T	6.37:g.27369064C>T							p.H305H	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	1460	+			305					B4DH77	Silent	SNP	ENST00000244576.4	37	c.915C>T	CCDS43429.1																																																																																				0.478	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		20	57	0	0	0	1	0	20	57				
COL11A1	1301	broad.mit.edu	37	1	103471441	103471441	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:103471441G>C	ENST00000370096.3	-	18	2110	c.1798C>G	c.(1798-1800)Cga>Gga	p.R600G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R484G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561G|COL11A1_ENST00000358392.2_Missense_Mutation_p.R612G|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	600	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAAACCCTCGATCTCCCTGT	0.373																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1834-1836)Cga>Gga		collagen, type XI, alpha 1							80.0	86.0	84.0					1																	103471441		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471441G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1798C>G	1.37:g.103471441G>C	ENSP00000359114:p.Arg600Gly					COL11A1_ENST00000512756.1_Missense_Mutation_p.R484G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561G|COL11A1_ENST00000461720.1_5'UTR	p.R612G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	18	2151	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	600			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1834C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801707	0.70682	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.73	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.85130	0.997;0.994;0.994;0.997	D	0.95857	0.8880	10	0.87932	D	0	.	11.3598	0.49636	0.0:0.0:0.6052:0.3948	.	484;561;612;600	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	600;612;561;484	ENSP00000359114:R600G;ENSP00000351163:R612G;ENSP00000302551:R561G;ENSP00000426533:R484G	ENSP00000302551:R561G	R	-	1	2	COL11A1	103244029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.259000	0.43259	2.704000	0.92352	0.655000	0.94253	CGA		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		33	120	0	0	0	1	0	33	120				
IKBKE	9641	broad.mit.edu	37	1	206646649	206646649	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:206646649C>T	ENST00000367120.3	+	3	452	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000463979.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTACAAGGCCCGCAACAAGGT	0.637																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(79-81)Cgc>Tgc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							40.0	35.0	37.0					1																	206646649		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206646649C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.79C>T	1.37:g.206646649C>T	ENSP00000356087:p.Arg27Cys					IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000462698.1_Intron	p.R27C	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			3	452	+	Breast(84;0.137)		27			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.79C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320306	0.81469	.	.	ENSG00000143466	ENST00000367120	T	0.47528	0.84	4.61	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77925	-0.2405	10	0.87932	D	0	0.0031	17.0188	0.86428	0.0:1.0:0.0:0.0	.	27	Q14164	IKKE_HUMAN	C	27	ENSP00000356087:R27C	ENSP00000356087:R27C	R	+	1	0	IKBKE	204713272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.370000	0.59517	2.107000	0.64212	0.555000	0.69702	CGC		0.637	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			5	15	0	0	0	1	0	5	15				
RYR2	6262	broad.mit.edu	37	1	237865278	237865278	+	Splice_Site	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:237865278T>C	ENST00000366574.2	+	66	9685	c.9368T>C	c.(9367-9369)tTg>tCg	p.L3123S	RYR2_ENST00000542537.1_Splice_Site_p.L3107S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Splice_Site_p.L3121S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3123					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCCTTAGTGGAAGATGTC	0.348																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e66-1		ryanodine receptor 2 (cardiac)							137.0	122.0	126.0					1																	237865278		1815	4083	5898	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237865278T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9368-1T>C	1.37:g.237865278T>C						RYR2_ENST00000360064.6_Splice_Site_p.L3121_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3107_splice	p.L3123_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		66	9685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3123					Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.9367_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417640	0.83449	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.26957	1.7;1.7;1.7	4.83	4.83	0.62350	.	0.000000	0.49916	U	0.000139	T	0.52996	0.1769	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.59129	-0.7512	9	.	.	.	.	14.6861	0.69049	0.0:0.0:0.0:1.0	.	3123	Q92736	RYR2_HUMAN	S	3123;3121;3107;78;118	ENSP00000355533:L3123S;ENSP00000353174:L3121S;ENSP00000443798:L3107S	.	L	+	2	0	RYR2	235931901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.989000	0.88205	1.920000	0.55613	0.467000	0.42956	TTG		0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	7	27	0	0	0	1	0	7	27				
MAP3K13	9175	broad.mit.edu	37	3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1810-1812)Gca>Aca		mitogen-activated protein kinase kinase kinase 13							267.0	290.0	282.0					3																	185190929		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190929G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1810G>A	3.37:g.185190929G>A	ENSP00000265026:p.Ala604Thr					MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T	p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2144	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		604						Missense_Mutation	SNP	ENST00000265026.3	37	c.1810G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628329	0.28978	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.47	3.66	0.41972	Protein kinase-like domain (1);	0.272838	0.34156	N	0.004210	T	0.33585	0.0868	N	0.14661	0.345	0.20074	N	0.999937	B;B;B	0.20671	0.047;0.047;0.01	B;B;B	0.17433	0.018;0.018;0.008	T	0.20672	-1.0268	10	0.37606	T	0.19	.	10.9504	0.47325	0.0684:0.0:0.8033:0.1283	.	460;397;604	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	397;604;460;460;604	ENSP00000411483:A397T;ENSP00000399910:A604T;ENSP00000409325:A460T;ENSP00000439257:A460T;ENSP00000265026:A604T	ENSP00000265026:A604T	A	+	1	0	MAP3K13	186673623	1.000000	0.71417	0.015000	0.15790	0.037000	0.13140	5.110000	0.64622	1.291000	0.44653	-0.268000	0.10319	GCA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		6	618	0	0	0	1	0	6	618				
FZD10	11211	broad.mit.edu	37	12	130649199	130649199	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:130649199A>G	ENST00000229030.4	+	1	2196	c.1712A>G	c.(1711-1713)tAt>tGt	p.Y571C	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	571					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGGGAAATATGAGATCCCT	0.557																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1711-1713)tAt>tGt		frizzled family receptor 10							21.0	26.0	24.0					12																	130649199		2196	4294	6490	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649199A>G	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1712A>G	12.37:g.130649199A>G	ENSP00000229030:p.Tyr571Cys					FZD10_ENST00000539839.1_3'UTR	p.Y571C			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2196	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		571						Missense_Mutation	SNP	ENST00000229030.4	37	c.1712A>G	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	9.954	1.220921	0.22457	.	.	ENSG00000111432	ENST00000229030	T	0.76709	-1.04	4.5	0.426	0.16479	.	0.871350	0.09946	U	0.735348	T	0.73606	0.3608	L	0.29908	0.895	0.51012	D	0.999904	D	0.58620	0.983	P	0.52710	0.707	T	0.65071	-0.6257	10	0.39692	T	0.17	.	9.5218	0.39140	0.5935:0.0:0.0:0.4064	.	571	Q9ULW2	FZD10_HUMAN	C	571	ENSP00000229030:Y571C	ENSP00000229030:Y571C	Y	+	2	0	FZD10	129215152	1.000000	0.71417	0.041000	0.18516	0.312000	0.27988	5.576000	0.67437	-0.214000	0.10078	-0.516000	0.04426	TAT		0.557	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	39	0	0	0	1	0	9	39				
CASKIN1	57524	broad.mit.edu	37	16	2237366	2237366	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:2237366C>T	ENST00000343516.6	-	7	806	c.714G>A	c.(712-714)cgG>cgA	p.R238R	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	238					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						CCAGCAGCAGCCGCACCACCT	0.652																																						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.(712-714)cgG>cgA		CASK interacting protein 1							59.0	72.0	68.0					16																	2237366		2116	4241	6357	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2237366C>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.714G>A	16.37:g.2237366C>T							p.R238R	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			7	806	-			238					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.714G>A	CCDS42103.1																																																																																				0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		52	92	0	0	0	1	0	52	92				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	56	0	0	0	1	0	4	56				
IGHV1-58	28464	broad.mit.edu	37	14	107078787	107078787	+	RNA	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:107078787G>T	ENST00000390628.2	-	0	82									immunoglobulin heavy variable 1-58																		ACCAAGAAGAGGACCCTCCAA	0.542																																						ENST00000390628.2																			0																				104.0	106.0	105.0					14																	107078787		1989	4172	6161			28464							g.chr14:107078787G>T	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078787G>T														0	82	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.542	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		20	110	1	0	6.33239e-15	1	6.83898e-15	20	110				
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:25384456_25384457insGCCGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCGGC	c.(295-300)ggcgca>ggcAGCAGCGGCgca	p.98_99insGSS	POMC_ENST00000395826.2_In_Frame_Ins_p.98_99insGSS|POMC_ENST00000264708.3_In_Frame_Ins_p.98_99insGSS|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_In_Frame_Ins_p.98_99insGSS			P01189	COLI_HUMAN	proopiomelanocortin	98			Missing. {ECO:0000269|PubMed:11244459, ECO:0000269|PubMed:7828531, ECO:0000269|PubMed:9768693}.		cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTCTGCCCTGCgccgctgctgc	0.728														386	0.0770767	0.2027	0.0317	5008	,	,		17351	0.0		0.0427	False		,,,				2504	0.0542				Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	GRCh37	CI042901|CI984063	POMC	I	rs10654394	c.(295-300)ggcagg>ggAGCAGCGGCcagg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)		,	619,2251		169,281,985					,	2.6	0.6		dbSNP_119	5	273,5657		76,121,2768	no	coding,coding	POMC	NM_001035256.1,NM_000939.2	,	245,402,3753	A1A1,A1R,RR		4.6037,21.5679,10.1364	,	,		892,7908				SO:0001652	inframe_insertion	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384456_25384457insGCCGCTGCT		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.289_297dupAGCAGCGGC	2.37:g.25384457_25384465dupGCCGCTGCT	ENSP00000384092:p.Gly96_Ser98dup					POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR	p.99_100GR>GAAAR			P01189	COLI_HUMAN			3	752_753	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99		Missing.			P78442|Q53T23|Q9UD39|Q9UD40	In_Frame_Ins	INS	ENST00000405623.1	37	c.297_298insAGCAGCGGC	CCDS1717.1																																																																																				0.728	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		5	7						5	7	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135095943	135095943	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:135095943C>G	ENST00000409645.1	+	7	1011	c.759C>G	c.(757-759)atC>atG	p.I253M	MGAT5_ENST00000281923.2_Missense_Mutation_p.I253M			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	253					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCCAAGCAATCAAGTCCCTGG	0.403																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(757-759)atC>atG		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							56.0	62.0	60.0					2																	135095943		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135095943C>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.759C>G	2.37:g.135095943C>G	ENSP00000386377:p.Ile253Met					MGAT5_ENST00000281923.2_Missense_Mutation_p.I253M	p.I253M			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	7	1011	+			253					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.759C>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176042	0.38413	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.76	3.93	0.45458	.	0.200959	0.51477	D	0.000084	T	0.53110	0.1776	L	0.46157	1.445	0.53688	D	0.999979	D	0.53151	0.958	P	0.51866	0.682	T	0.53975	-0.8362	9	0.49607	T	0.09	-15.9139	9.5745	0.39450	0.0:0.7558:0.0:0.2442	.	253	Q09328	MGT5A_HUMAN	M	253	.	ENSP00000281923:I253M	I	+	3	3	MGAT5	134812413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.573000	0.36472	1.555000	0.49500	0.655000	0.94253	ATC		0.403	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		28	102	0	0	0	1	0	28	102				
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	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|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs	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	202						8	202	---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749007	2749018	+	In_Frame_Del	DEL	TCCTCGTCGTCG	TCCTCGTCGTCG	-	rs111614286|rs183565355		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:2749007_2749018delTCCTCGTCGTCG	ENST00000382611.6	-	3	1052_1063	c.804_815delCGACGACGAGGA	c.(802-816)gacgacgacgaggag>gag	p.DDDE268del	IRX2_ENST00000302057.5_In_Frame_Del_p.DDDE268del|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	268					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCTCGCCCTCCTCGTCGTCGTCCTCGTCGT	0.736																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(802-816)gag>ga		iroquois homeobox 2																																				SO:0001651	inframe_deletion	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749007_2749018delTCCTCGTCGTCG	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.804_815delCGACGACGAGGA	5.37:g.2749007_2749018delTCCTCGTCGTCG	ENSP00000372056:p.Asp268_Glu271del					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_In_Frame_Del_p.DDDEE268del	p.DDDEE268del	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1052_1063	-			268					Q68A19|Q7Z2I7	In_Frame_Del	DEL	ENST00000382611.6	37	c.804_815delCGACGACGAGGA	CCDS3868.1																																																																																				0.736	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			13	106						13	106	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:89891719_89891721delAAG	ENST00000454853.2	-	8	962_964	c.852_854delCTT	c.(850-855)ttcttg>ttg	p.F284del	GABRR1_ENST00000369451.3_In_Frame_Del_p.F197del|GABRR1_ENST00000435811.1_In_Frame_Del_p.F267del	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGTTTGGAGCAAGAAGAAGAAGA	0.522																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(799-804)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)																																			SO:0001651	inframe_deletion	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891719_89891721delAAG		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.852_854delCTT	6.37:g.89891728_89891730delAAG	ENSP00000412673:p.Phe284del					GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del	p.FL267del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1255_1257	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	284					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	In_Frame_Del	DEL	ENST00000454853.2	37	c.801_803delCTT	CCDS5019.2																																																																																				0.522	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			7	161						7	161	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373264	87373265	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:87373264_87373265insT	ENST00000327946.7	-	15	2585_2586	c.2500_2501insA	c.(2500-2502)gtcfs	p.V834fs	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Frame_Shift_Ins_p.V405fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	834					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GATGCAGAAGACCCCGGCGAAG	0.658										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2500-2502)cttfs		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373264_87373265insT	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2500_2501insA	10.37:g.87373264_87373265insT	ENSP00000330148:p.Val834fs	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Frame_Shift_Ins_p.L405fs	p.L834fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			15	2585_2586	-			834					B3KXD5|B7Z7L0|Q8IXT3	Frame_Shift_Ins	INS	ENST00000327946.7	37	c.2500_2501insA	CCDS31236.1																																																																																				0.658	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		17	69						17	69	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000311051.3_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		7	58						7	58	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18699269	18699269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:18699269delG	ENST00000266497.5	+	24	3408	c.3370delG	c.(3370-3372)ggafs	p.G1124fs	PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.G1165fs|PIK3C2G_ENST00000433979.1_Frame_Shift_Del_p.G1124fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1124	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCTGTATGCAGGACTGCCTGA	0.378																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3370-3372)gafs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							125.0	108.0	113.0					12																	18699269		1942	4158	6100	SO:0001589	frameshift_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18699269delG	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3370delG	12.37:g.18699269delG	ENSP00000266497:p.Gly1124fs					PIK3C2G_ENST00000266497.5_Frame_Shift_Del_p.G1124fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.G1165fs	p.G1124fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			25	3486	+		Hepatocellular(102;0.194)	1124			PI3K/PI4K.		A1L3U0	Frame_Shift_Del	DEL	ENST00000266497.5	37	c.3370delG	CCDS44839.1																																																																																				0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		19	9						19	9	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41704634	41704636	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:41704634_41704636delCTA	ENST00000379485.1	-	1	2246_2248	c.2012_2014delTAG	c.(2011-2016)gtagcg>gcg	p.V671del	KBTBD6_ENST00000499385.2_In_Frame_Del_p.V605del	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	671										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACTGAGGCGCTACACGCACCCA	0.394																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(2011-2016)gcg>g		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001651	inframe_deletion	89890						protein binding	g.chr13:41704634_41704636delCTA	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.2012_2014delTAG	13.37:g.41704634_41704636delCTA	ENSP00000368799:p.Val671del					KBTBD6_ENST00000499385.2_In_Frame_Del_p.VA605del	p.VA671del	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	2246_2248	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	671					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	In_Frame_Del	DEL	ENST00000379485.1	37	c.2012_2014delTAG	CCDS9376.1																																																																																				0.394	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		19	44						19	44	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52803642	52803643	+	RNA	DEL	TT	TT	-	rs374208420|rs201626119		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:52803642_52803643delTT	ENST00000451298.1	-	0	938				TPTE2P2_ENST00000606973.1_RNA																							CAGTTTTCCCTTTTTTTTTTTT	0.332																																						ENST00000451298.1																			0																																																			644623							g.chr13:52803642_52803643delTT																													13.37:g.52803652_52803653delTT						RP11-64P12.8_ENST00000606031.1_RNA								0	938	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.332	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	5						4	5	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-	rs371633333		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(484-489)gct>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493648_77493650delGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del						p.AA162del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1384_1386	-			162			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.486_488delCGC	CCDS9854.1																																																																																				0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		6	3						6	3	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4954018	4954019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:4954018_4954019insC	ENST00000345988.2	-	3	274_275	c.185_186insG	c.(184-186)ggtfs	p.G62fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.G62fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	62					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGCTGCCGACCCTCCTGCAG	0.619																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(184-186)gcgfs		periplakin																																				SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4954018_4954019insC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.186dupG	16.37:g.4954021_4954021dupC	ENSP00000340510:p.Gly62fs					PPL_ENST00000590782.2_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			3	274_275	-			62					O60314|O60454|Q14C98	Frame_Shift_Ins	INS	ENST00000345988.2	37	c.185_186insG	CCDS10526.1																																																																																				0.619	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		20	32						20	32	---	---	---	---
GFRA4	64096	broad.mit.edu	37	20	3641501	3641501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:3641501delG	ENST00000319242.3	-	2	481	c.482delC	c.(481-483)cctfs	p.P161fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.L135fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	161					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						TGAAAGGCCAGGAGGCGAGGC	0.801																																						ENST00000290417.2																			0				large_intestine(1)|lung(2)	3						c.(403-405)tgfs		GDNF family receptor alpha 4							2.0	3.0	2.0					20																	3641501		1341	2860	4201	SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641501delG	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.482delC	20.37:g.3641501delG	ENSP00000313423:p.Pro161fs					GFRA4_ENST00000319242.3_Frame_Shift_Del_p.P161fs	p.L135fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN			3	402	-			135					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.403delC	CCDS13056.1																																																																																				0.801	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		2	4						2	4	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	198						7	198	---	---	---	---
