#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATG4C	84938	broad.mit.edu	37	1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303																																						ENST00000317868.4																		ATG4C/FBXO38(2)	2	Substitution - Missense(2)	p.F386L(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						c.(1156-1158)Ttt>Ctt		autophagy related 4C, cysteine peptidase							59.0	61.0	60.0					1																	63307165		2202	4299	6501	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63307165T>C	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1156T>C	1.37:g.63307165T>C	ENSP00000322159:p.Phe386Leu					ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN			10	1363	+			386					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.1156T>C	CCDS623.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682371	0.88542	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.66815	-0.23;-0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.81942	2.565	0.80722	D	1	B	0.31581	0.329	P	0.46975	0.533	T	0.75453	-0.3312	10	0.54805	T	0.06	-9.7203	15.7542	0.78011	0.0:0.0:0.0:1.0	.	386	Q96DT6	ATG4C_HUMAN	L	386	ENSP00000322159:F386L;ENSP00000360161:F386L	ENSP00000322159:F386L	F	+	1	0	ATG4C	63079753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.116000	0.64780	0.477000	0.44152	TTT		0.303	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		4	137	4	137	---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68947728	68947728	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353																																						ENST00000456315.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.e8+1		DEP domain containing 1							64.0	60.0	61.0					1																	68947728		1568	3581	5149	SO:0001630	splice_region_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947728C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1762+1G>T	1.37:g.68947728C>A						RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron		NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1877	-								A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Splice_Site	SNP	ENST00000456315.2	37		CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188727	0.57909	.	.	ENSG00000024526	ENST00000456315	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6613	0.95875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1	68720316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.639000	0.89480	0.650000	0.86243	.		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	Intron	87	111	87	111	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92185486	92185486	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000525962.1	-	8	1438	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000212355.4_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502																																						ENST00000212355.4																			1	Substitution - coding silent(1)	p.E459E(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1375-1377)gaG>gaA		transforming growth factor, beta receptor III							154.0	153.0	154.0					1																	92185486		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185486C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1377G>A	1.37:g.92185486C>T						TGFBR3_ENST00000525962.1_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E	p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1842	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	459			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.1377G>A	CCDS30770.1																																																																																				0.502	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		7	221	7	221	---	---	---	---
REG4	83998	broad.mit.edu	37	1	120342381	120342381	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000256585.5_Silent_p.Q90Q|REG4_ENST00000530654.1_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522																																						ENST00000354219.1																			1	Substitution - coding silent(1)	p.Q90Q(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(268-270)caG>caA		regenerating islet-derived family, member 4							159.0	147.0	151.0					1																	120342381		2203	4300	6503	SO:0001819	synonymous_variant	83998					extracellular region	sugar binding	g.chr1:120342381C>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.270G>A	1.37:g.120342381C>T						REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	709	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	90			C-type lectin.		Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	c.270G>A	CCDS906.1																																																																																				0.522	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		20	322	20	322	---	---	---	---
PGLYRP3	114771	broad.mit.edu	37	1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473																																						ENST00000290722.1																			1	Substitution - Missense(1)	p.C238F(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(712-714)tGt>tTt		peptidoglycan recognition protein 3							246.0	228.0	234.0					1																	153274900		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274900C>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.713G>T	1.37:g.153274900C>A	ENSP00000290722:p.Cys238Phe						p.C238F	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	765	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		238					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.713G>T	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842334	0.51057	.	.	ENSG00000159527	ENST00000290722	T	0.13657	2.57	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.64402	D	0.000004	T	0.22003	0.0530	M	0.80982	2.52	0.47245	D	0.999369	D	0.89917	1.0	D	0.87578	0.998	T	0.20009	-1.0288	10	0.09843	T	0.71	-38.6811	12.1343	0.53961	0.0:1.0:0.0:0.0	.	238	Q96LB9	PGRP3_HUMAN	F	238	ENSP00000290722:C238F	ENSP00000290722:C238F	C	-	2	0	PGLYRP3	151541524	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	3.407000	0.52644	2.230000	0.72887	0.655000	0.94253	TGT		0.473	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		104	469	104	469	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408																																						ENST00000367136.4																			1	Substitution - Missense(1)	p.P62T(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(184-186)Cca>Aca		peptidase M20 domain containing 1							50.0	48.0	48.0					1																	205817085		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205817085G>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.184C>A	1.37:g.205817085G>T	ENSP00000356104:p.Pro62Thr					PM20D1_ENST00000460624.1_5'UTR	p.P62T	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	228	-	Breast(84;0.201)		62					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.184C>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418971	0.62622	.	.	ENSG00000162877	ENST00000367136	T	0.12039	2.72	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.82823	2.61	0.49130	D	0.999753	D	0.69078	0.997	D	0.63703	0.917	T	0.24941	-1.0146	10	0.59425	D	0.04	.	13.7727	0.63036	0.0:0.0:0.8457:0.1543	.	62	Q6GTS8	P20D1_HUMAN	T	62	ENSP00000356104:P62T	ENSP00000356104:P62T	P	-	1	0	PM20D1	204083708	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.407000	0.59754	2.417000	0.82017	0.561000	0.74099	CCA		0.408	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		57	84	57	84	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	183					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q183*(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGGCCCGGCAGGCTAAGGC	0.617																																						ENST00000366779.1																			1	Substitution - Nonsense(1)	p.Q183*(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(547-549)Cag>Tag		aarF domain containing kinase 3							23.0	26.0	25.0					1																	227153070		2190	4277	6467	SO:0001587	stop_gained	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227153070C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.547C>T	1.37:g.227153070C>T	ENSP00000355741:p.Gln183*					ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*	p.Q183*			Q8NI60	ADCK3_HUMAN			8	3318	+			183					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Nonsense_Mutation	SNP	ENST00000366779.1	37	c.547C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	56	26.536424	0.99969	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	.	.	.	5.9	5.9	0.94986	.	0.065738	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	1.7768	14.6367	0.68694	0.0:0.8543:0.1456:0.0	.	.	.	.	X	183;131;183;108;28;134	.	ENSP00000355737:Q28X	Q	+	1	0	ADCK3	225219693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.266000	0.43320	2.808000	0.96608	0.650000	0.86243	CAG		0.617	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		30	3	30	3	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235490233	235490233	+	Start_Codon_SNP	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:235490233A>C	ENST00000264183.3	-	2	499	c.2T>G	c.(1-3)aTg>aGg	p.M1R	GGPS1_ENST00000391855.2_5'Flank|ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|GGPS1_ENST00000476121.1_5'Flank|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R|GGPS1_ENST00000282841.5_5'Flank|GGPS1_ENST00000488594.1_5'Flank|GGPS1_ENST00000358966.2_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCT	0.522																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.M1R(1)	prostate(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1-3)aTg>aGg		AT rich interactive domain 4B (RBP1-like)							147.0	144.0	145.0					1																	235490233		2203	4300	6503	SO:0001582	initiator_codon_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235490233A>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2T>G	1.37:g.235490233A>C	ENSP00000264183:p.Met1Arg					ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R	p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		2	499	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Translation_Start_Site	SNP	ENST00000264183.3	37	c.2T>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305542	0.40795	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.31247	1.65;1.5;1.5;1.76	4.44	4.44	0.53790	.	1.405150	0.04988	U	0.466797	T	0.29652	0.0740	.	.	.	0.80722	D	1	B;B;B;B	0.32620	0.027;0.255;0.378;0.261	B;B;B;B	0.29353	0.005;0.101;0.101;0.047	T	0.08391	-1.0724	9	0.87932	D	0	.	10.0873	0.42425	1.0:0.0:0.0:0.0	.	1;1;1;1	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	R	1	ENSP00000264184:M1R;ENSP00000355562:M1R;ENSP00000264183:M1R;ENSP00000391497:M1R	ENSP00000264183:M1R	M	-	2	0	ARID4B	233556856	1.000000	0.71417	0.988000	0.46212	0.541000	0.35023	4.160000	0.58164	1.629000	0.50426	0.533000	0.62120	ATG		0.522	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Missense_Mutation	136	28	136	28	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493																																						ENST00000295321.4																			1	Substitution - Missense(1)	p.P206L(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(616-618)cCt>cTt		IWS1 homolog (S. cerevisiae)							142.0	146.0	145.0					2																	128262862		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262862G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.617C>T	2.37:g.128262862G>A	ENSP00000295321:p.Pro206Leu					IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA	p.P206L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	876	-	Colorectal(110;0.1)		206			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.617C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963158	0.18583	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.32988	1.43;1.46	5.79	2.26	0.28386	.	0.569651	0.17830	N	0.160577	T	0.17831	0.0428	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.09400	-1.0676	10	0.40728	T	0.16	-5.8546	3.3095	0.07011	0.0834:0.317:0.367:0.2326	.	206	Q96ST2	IWS1_HUMAN	L	206;159;213;211	ENSP00000295321:P206L;ENSP00000399245:P213L	ENSP00000295321:P206L	P	-	2	0	IWS1	127979332	0.005000	0.15991	0.418000	0.26571	0.893000	0.52053	0.597000	0.24059	1.419000	0.47118	0.591000	0.81541	CCT		0.493	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		101	250	101	250	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588|rs121913416|rs121913417		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)Gac>Cac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>C	3.37:g.41266097G>C	ENSP00000344456:p.Asp32His					CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H	p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	374	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566795	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74003	-0.3804	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	.	32	P35222	CTNB1_HUMAN	H	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25H;ENSP00000385604:D32H;ENSP00000412219:D32H;ENSP00000379486:D32H;ENSP00000344456:D32H;ENSP00000411226:D25H;ENSP00000379488:D32H;ENSP00000409302:D32H;ENSP00000401599:D32H	ENSP00000344456:D32H	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		19	31	19	31	---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000505594.1_5'Flank	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706																																						ENST00000286733.4																			1	Substitution - Missense(1)	p.A63P(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(187-189)Gcg>Ccg		N-acylethanolamine acid amidase							12.0	14.0	14.0					4																	76861916		1895	4045	5940	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861916C>G	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.187G>C	4.37:g.76861916C>G	ENSP00000286733:p.Ala63Pro					NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P	p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	288	-			63					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.187G>C	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961617	0.34659	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000399490;ENST00000507187	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	3.73	1.97	0.26223	.	0.433096	0.24620	N	0.036968	T	0.37489	0.1005	M	0.70275	2.135	0.09310	N	1	P;B	0.46064	0.872;0.154	B;B	0.38458	0.274;0.054	T	0.23940	-1.0174	10	0.25106	T	0.35	-7.5181	4.414	0.11447	0.2221:0.6583:0.0:0.1196	.	63;63	D6R9S9;Q02083	.;NAAA_HUMAN	P	63	ENSP00000382420:A63P;ENSP00000286733:A63P;ENSP00000427641:A63P;ENSP00000423142:A63P	ENSP00000286733:A63P	A	-	1	0	NAAA	77080940	0.015000	0.18098	0.003000	0.11579	0.018000	0.09664	0.389000	0.20751	0.369000	0.24510	0.460000	0.39030	GCG		0.706	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			14	53	14	53	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000265517.5	+	15	2403	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000511045.1_Missense_Mutation_p.L761I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.L734I			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACTTATTCTGCTAATAGATCA	0.408																																						ENST00000457717.1																			1	Substitution - Missense(1)	p.L734I(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2200-2202)Cta>Ata		microsomal triglyceride transfer protein	Hesperetin(DB01094)						109.0	100.0	103.0					4																	100534280		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534280C>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2200C>A	4.37:g.100534280C>A	ENSP00000265517:p.Leu734Ile					MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I	p.L734I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2456	+			734					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2200C>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764096	0.69878	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70164	-0.46;-0.44;-0.44	5.49	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.68952	2.095	0.45914	D	0.998757	B;D	0.62365	0.047;0.991	B;P	0.58928	0.052;0.848	T	0.66352	-0.5945	10	0.39692	T	0.17	-23.35	7.1113	0.25392	0.1217:0.6796:0.0:0.1986	.	761;734	E9PBP6;P55157	.;MTP_HUMAN	I	761;734;734	ENSP00000427679:L761I;ENSP00000400821:L734I;ENSP00000265517:L734I	ENSP00000265517:L734I	L	+	1	2	MTTP	100753303	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	1.485000	0.35519	0.020000	0.15106	-0.238000	0.12139	CTA		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			39	34	39	34	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						ENST00000304883.2																			1	Substitution - Missense(1)	p.V403M(1)	prostate(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1207-1209)Gtg>Atg		tachykinin receptor 3							235.0	217.0	223.0					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.V403M	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1347	-		Hepatocellular(203;0.217)	403					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		166	232	166	232	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000437473.2	-	7	1097	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000504921.2_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413										HNSCC(66;0.2)																												ENST00000504921.2																			2	Substitution - Missense(2)	p.V225A(1)|p.V227A(1)	prostate(2)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(679-681)gTc>gCc		myocyte enhancer factor 2C							88.0	85.0	86.0					5																	88027676		1862	4089	5951	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027676A>G	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.680T>C	5.37:g.88027676A>G	ENSP00000396219:p.Val227Ala	HNSCC(66;0.2)				MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A	p.V227A			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1352	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	227					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.680T>C	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387572	0.42308	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87029	0.14;0.12;0.19;0.17;0.17;0.11;-0.16;-0.21;-0.11;0.49;-2.2;-2.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	L	0.57536	1.79	0.80722	D	1	P;P;D;D	0.62365	0.76;0.732;0.98;0.991	B;P;D;P	0.69824	0.269;0.561;0.966;0.835	D	0.86539	0.1827	10	0.02654	T	1	-4.8828	16.8222	0.85835	1.0:0.0:0.0:0.0	.	225;245;227;227	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	A	245;225;227;227;227;227;227;227;227;179;225;225	ENSP00000340874:V245A;ENSP00000389610:V225A;ENSP00000421925:V227A;ENSP00000426665:V227A;ENSP00000396219:V227A;ENSP00000422390:V227A;ENSP00000425636:V227A;ENSP00000423597:V227A;ENSP00000424606:V227A;ENSP00000441153:V179A;ENSP00000423826:V225A;ENSP00000423656:V225A	ENSP00000340874:V245A	V	-	2	0	MEF2C	88063432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.795000	0.69074	2.371000	0.80710	0.533000	0.62120	GTC		0.413	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		28	45	28	45	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423																																						ENST00000369066.3																			1	Substitution - Nonsense(1)	p.L916*(1)	prostate(1)	breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2746-2748)tTg>tAg		absent in melanoma 1							92.0	104.0	99.0					6																	106969054		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:106969054T>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2747T>A	6.37:g.106969054T>A	ENSP00000358062:p.Leu916*						p.L916*	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3234	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	916					Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.2747T>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	44	10.952703	0.99494	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	5.91	5.91	0.95273	.	1.673730	0.02973	N	0.144619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8973	0.70654	0.0:0.0:0.0:1.0	.	.	.	.	X	1324;916	.	ENSP00000285105:L1324X	L	+	2	0	AIM1	107075747	0.997000	0.39634	0.885000	0.34714	0.387000	0.30353	3.516000	0.53436	2.251000	0.74343	0.533000	0.62120	TTG		0.423	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			11	167	11	167	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428																																						ENST00000338728.5																			1	Substitution - Missense(1)	p.S55C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(163-165)tCt>tGt		discoidin, CUB and LCCL domain containing 1							139.0	132.0	135.0					6																	117824981		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117824981C>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.164C>G	6.37:g.117824981C>G	ENSP00000342422:p.Ser55Cys					GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C	p.S55C			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	2	284	+		all_cancers(87;0.171)	55			CUB.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.164C>G		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878412	0.72294	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	T;T;T	0.32272	1.46;1.46;1.46	5.09	5.09	0.68999	CUB (5);	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	H	0.98426	4.23	0.41855	D	0.990196	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82313	-0.0519	10	0.87932	D	0	-11.7914	19.0393	0.92992	0.0:1.0:0.0:0.0	.	55;55	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	C	55	ENSP00000296955:S55C;ENSP00000357489:S55C;ENSP00000342422:S55C	ENSP00000296955:S55C	S	+	2	0	DCBLD1	117931674	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.744000	0.68664	2.807000	0.96579	0.557000	0.71058	TCT		0.428	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		65	99	65	99	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132195477	132195477	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			1	Substitution - coding silent(1)	p.Q493Q(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1633-1635)caA>caG		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						82.0	89.0	87.0					6																	132195477		2203	4280	6483	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195477A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1635+1A>G	6.37:g.132195477A>G							p.Q545Q	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1655	+	Breast(56;0.0505)		545			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.1635A>G	CCDS5150.2																																																																																				0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Silent	10	252	10	252	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642																																						ENST00000313367.2																			1	Substitution - Missense(1)	p.E580G(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1738-1740)gAa>gGa		oxysterol binding protein-like 3							63.0	66.0	65.0					7																	24874112		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874112T>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1739A>G	7.37:g.24874112T>C	ENSP00000315410:p.Glu580Gly					OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G	p.E580G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2190	-			580					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1739A>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299689	0.81136	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.85	5.85	0.93711	.	0.095761	0.64402	D	0.000001	T	0.64114	0.2569	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.992;0.985;0.985;0.968;0.988	D;D;P;P;P;D	0.73380	0.98;0.951;0.856;0.856;0.738;0.911	T	0.69680	-0.5080	10	0.87932	D	0	-25.5918	16.2392	0.82399	0.0:0.0:0.0:1.0	.	513;544;513;549;544;580	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	G	580;549;544;513;549;544;513	ENSP00000315410:E580G;ENSP00000315331:E549G;ENSP00000315277:E544G;ENSP00000389779:E513G;ENSP00000379708:E549G;ENSP00000379706:E544G;ENSP00000386953:E513G	ENSP00000315410:E580G	E	-	2	0	OSBPL3	24840637	1.000000	0.71417	0.929000	0.37066	0.172000	0.22775	7.443000	0.80521	2.239000	0.73571	0.383000	0.25322	GAA		0.642	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			66	116	66	116	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478																																						ENST00000310430.6																			3	Substitution - Missense(3)	p.T905S(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2713-2715)Act>Tct		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							95.0	94.0	95.0					8																	9605603		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605603A>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2713A>T	8.37:g.9605603A>T	ENSP00000311579:p.Thr905Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	p.T905S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2739	+			905					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2713A>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	32	5.160080	0.94727	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.79247	-1.25;1.75	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86683	0.1918	10	0.66056	D	0.02	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	905	O95271	TNKS1_HUMAN	S	905;668	ENSP00000311579:T905S;ENSP00000429890:T668S	ENSP00000311579:T905S	T	+	1	0	TNKS	9643013	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.109000	0.94291	2.243000	0.73865	0.528000	0.53228	ACT		0.478	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		63	36	63	36	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C	rs374120510		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517																																						ENST00000328655.3																			1	Substitution - Missense(1)	p.I136T(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(406-408)aTa>aCa		protease, serine, 55		T	THR/ILE,THR/ILE	0,4406		0,0,2203	165.0	154.0	158.0		407,407	0.3	0.0	8		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS55	NM_001197020.1,NM_198464.3	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	136/277,136/353	10388864	1,13005	2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388864T>C	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.407T>C	8.37:g.10388864T>C	ENSP00000333003:p.Ile136Thr					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	447	+			136			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.407T>C	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	T	8.645	0.896796	0.17686	0.0	1.16E-4	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88277	-2.36;-2.36	4.48	0.286	0.15710	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.174910	0.02476	N	0.087986	T	0.76385	0.3980	N	0.10809	0.05	0.09310	N	1	P	0.48589	0.912	P	0.44394	0.448	T	0.70400	-0.4882	10	0.09084	T	0.74	.	1.1043	0.01690	0.188:0.1065:0.1945:0.511	.	136	Q6UWB4	PRS55_HUMAN	T	136	ENSP00000333003:I136T;ENSP00000430459:I136T	ENSP00000333003:I136T	I	+	2	0	PRSS55	10426274	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.001000	0.13038	0.275000	0.22094	-0.256000	0.11100	ATA		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		169	63	169	63	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000518131.1_Missense_Mutation_p.D649V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438																																						ENST00000221166.5																			1	Substitution - Missense(1)	p.D867V(1)	prostate(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2599-2601)gAt>gTt		neurofilament, medium polypeptide							69.0	72.0	71.0					8																	24775968		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775968A>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2600A>T	8.37:g.24775968A>T	ENSP00000221166:p.Asp867Val					NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V	p.D867V			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	3382	+		Prostate(55;0.157)	867			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2600A>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255312	0.59321	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.98732	-3.91;-3.46;-3.69;-5.1	4.63	4.63	0.57726	.	0.000000	0.46442	D	0.000298	D	0.98504	0.9501	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.969;0.998	P;P	0.59115	0.585;0.852	D	0.99282	1.0896	10	0.87932	D	0	.	14.0407	0.64674	1.0:0.0:0.0:0.0	.	649;867	E7EMV2;P07197	.;NFM_HUMAN	V	867;649;828;491	ENSP00000221166:D867V;ENSP00000427872:D649V;ENSP00000410137:D828V;ENSP00000412295:D491V	ENSP00000221166:D867V	D	+	2	0	NEFM	24831873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.977000	0.76141	1.717000	0.51406	0.383000	0.25322	GAT		0.438	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		55	14	55	14	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383																																						ENST00000310193.3																			1	Substitution - Missense(1)	p.R68M(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(202-204)aGg>aTg		cytochrome P450, family 7, subfamily B, polypeptide 1							144.0	140.0	141.0					8																	65537016		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65537016C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.203G>T	8.37:g.65537016C>A	ENSP00000310721:p.Arg68Met						p.R68M	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			2	376	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	68					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.203G>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758294	0.31137	.	.	ENSG00000172817	ENST00000310193	T	0.68903	-0.36	5.52	-0.308	0.12773	.	1.181470	0.05699	N	0.593732	T	0.50069	0.1594	N	0.19112	0.55	0.09310	N	1	P	0.51351	0.944	B	0.42245	0.381	T	0.46456	-0.9190	10	0.59425	D	0.04	-22.326	5.4839	0.16739	0.0:0.3036:0.3124:0.3841	.	68	O75881	CP7B1_HUMAN	M	68	ENSP00000310721:R68M	ENSP00000310721:R68M	R	-	2	0	CYP7B1	65699570	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.210000	0.32370	0.015000	0.14971	-0.469000	0.05056	AGG		0.383	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			84	383	84	383	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P|CCNE2_ENST00000523476.1_5'Flank|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383																																						ENST00000520509.1																			1	Substitution - Missense(1)	p.H303P(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(907-909)cAt>cCt		cyclin E2							151.0	145.0	147.0					8																	95895044		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95895044T>G	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.908A>C	8.37:g.95895044T>G	ENSP00000429089:p.His303Pro					CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P	p.H303P			O96020	CCNE2_HUMAN			10	1160	-	Breast(36;8.75e-07)		303					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.908A>C	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749002	0.89753	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.36520	1.25;1.25;1.25	6.17	6.17	0.99709	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.987	T	0.67146	-0.5744	10	0.36615	T	0.2	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	303;303	Q8WUE3;O96020	.;CCNE2_HUMAN	P	303;303;195;303	ENSP00000429089:H303P;ENSP00000309181:H303P;ENSP00000379437:H303P	ENSP00000309181:H303P	H	-	2	0	CCNE2	95964220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CAT		0.383	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		89	371	89	371	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000220888.5	-	6	3301	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000395715.3_Missense_Mutation_p.D1061N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome																													ENST00000395715.3																			3	Substitution - Missense(3)	p.D1061N(2)|p.D1048N(1)	prostate(3)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3181-3183)Gat>Aat		trichorhinophalangeal syndrome I							165.0	157.0	160.0					8																	116426955		1886	4114	6000	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426955C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3142G>A	8.37:g.116426955C>T	ENSP00000220888:p.Asp1048Asn					TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N	p.D1061N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	3758	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1048			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3181G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267746|3.267746	0.59540|0.59540	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98362|.	-4.89;-4.86;-4.84;-4.87|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057572|.	0.64402|.	D|.	0.000001|.	T|T	0.48021|0.48021	0.1477|0.1477	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46142|.	0.873;0.799;0.873|.	P;B;P|.	0.44811|.	0.461;0.272;0.461|.	T|T	0.43163|0.43163	-0.9408|-0.9408	10|5	0.72032|.	D|.	0.01|.	.|.	19.865|19.865	0.96801|0.96801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1052;1048;1061|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	N|K	1061;1048;802;1052|172	ENSP00000379065:D1061N;ENSP00000220888:D1048N;ENSP00000428910:D802N;ENSP00000428680:D1052N|.	ENSP00000220888:D1048N|.	D|R	-|-	1|2	0|0	TRPS1|TRPS1	116496131|116496131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.241000|3.241000	0.51376|0.51376	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	519	8	519	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368																																						ENST00000355849.5																			1	Substitution - Missense(1)	p.K85N(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(253-255)aaG>aaT		KH domain containing, RNA binding, signal transduction associated 3							123.0	128.0	127.0					8																	136554944		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554944G>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.255G>T	8.37:g.136554944G>T	ENSP00000348108:p.Lys85Asn					KHDRBS3_ENST00000520981.1_Intron	p.K85N	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	665	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		85			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.255G>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592636	0.66219	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.53423	0.62;0.62;0.62	5.82	4.02	0.46733	K Homology (1);	0.043909	0.85682	D	0.000000	T	0.70885	0.3275	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.73500	-0.3963	10	0.87932	D	0	-19.966	8.9257	0.35639	0.2256:0.0:0.7744:0.0	.	85;85	O75525-2;O75525	.;KHDR3_HUMAN	N	85;57;58	ENSP00000348108:K85N;ENSP00000431022:K57N;ENSP00000430284:K58N	ENSP00000348108:K85N	K	+	3	2	KHDRBS3	136624126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	0.801000	0.34066	0.655000	0.94253	AAG		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			87	366	87	366	---	---	---	---
TBC1D2	55357	broad.mit.edu	37	9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375064.1	-	5	961	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.V308G	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.V308G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(922-924)gTg>gGg		TBC1 domain family, member 2							130.0	113.0	119.0					9																	100991289		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991289A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.923T>G	9.37:g.100991289A>C	ENSP00000364205:p.Val308Gly					TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	p.V308G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	1014	-		Myeloproliferative disorder(762;0.0255)	308			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.923T>G		.	.	.	.	.	.	.	.	.	.	A	12.18	1.861622	0.32884	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14266	2.52;2.92;2.52	5.49	1.72	0.24424	.	0.216928	0.39985	N	0.001210	T	0.16385	0.0394	M	0.66939	2.045	0.27289	N	0.957898	B;B	0.31548	0.22;0.328	B;B	0.36766	0.154;0.232	T	0.13124	-1.0521	10	0.87932	D	0	.	6.9122	0.24340	0.6961:0.0:0.3039:0.0	.	308;308	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	G	308;308;90	ENSP00000364205:V308G;ENSP00000364207:V308G;ENSP00000341567:V90G	ENSP00000341567:V90G	V	-	2	0	TBC1D2	100031110	0.963000	0.33076	0.054000	0.19295	0.821000	0.46438	1.788000	0.38714	0.041000	0.15688	0.533000	0.62120	GTG		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		61	88	61	88	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356083.3																			1	Substitution - Missense(1)	p.L1693P(1)	prostate(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5077-5079)cTc>cCc		collagen, type XXVII, alpha 1							43.0	45.0	44.0					9																	117068939		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117068939T>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5078T>C	9.37:g.117068939T>C	ENSP00000348385:p.Leu1693Pro		OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.L1693P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			58	5469	+			1693			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5078T>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617313	0.66672	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.82344	-1.6	5.2	5.2	0.72013	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.93572	0.7948	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95150	0.8272	9	0.87932	D	0	.	13.0021	0.58681	0.0:0.0:0.0:1.0	.	1693	Q8IZC6	CORA1_HUMAN	P	1693;1700	ENSP00000348385:L1693P	ENSP00000348385:L1693P	L	+	2	0	COL27A1	116108760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	1.939000	0.56221	0.460000	0.39030	CTC		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		31	58	31	58	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000337653.2	+	8	1391	c.1238A>T	c.(1237-1239)tAc>tTc	p.Y413F	CHAT_ENST00000395562.2_Missense_Mutation_p.Y331F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCGGAGGCTACAGCAAGAAC	0.632																																						ENST00000395562.2																			1	Substitution - Missense(1)	p.Y413F(1)	prostate(1)	central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(991-993)tAc>tTc		choline O-acetyltransferase	Choline(DB00122)						80.0	69.0	73.0					10																	50854677		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854677A>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1238A>T	10.37:g.50854677A>T	ENSP00000337103:p.Tyr413Phe					CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F	p.Y331F	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1461	+		all_neural(218;0.107)	413					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.992A>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	7.597	0.671903	0.14776	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.46	2.05	0.26809	.	0.573344	0.19883	N	0.103903	T	0.64461	0.2600	L	0.36672	1.1	0.22656	N	0.998889	B;B	0.21225	0.005;0.053	B;B	0.26094	0.004;0.066	T	0.41556	-0.9502	10	0.10636	T	0.68	-7.835	2.6123	0.04894	0.4415:0.0:0.3441:0.2144	.	295;413	F8W8I2;P28329	.;CLAT_HUMAN	F	295;295;295;413;331;295	ENSP00000343486:Y295F;ENSP00000345878:Y295F;ENSP00000378926:Y295F;ENSP00000337103:Y413F;ENSP00000378929:Y331F;ENSP00000390521:Y295F	ENSP00000337103:Y413F	Y	+	2	0	CHAT	50524683	0.911000	0.30947	1.000000	0.80357	0.588000	0.36517	0.780000	0.26760	0.675000	0.31264	-0.177000	0.13119	TAC		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		33	48	33	48	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134942935	134942935	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000392607.3	+	7	2039	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L	GPR123_ENST00000607359.1_Silent_p.L1254L|GPR123_ENST00000392606.2_Silent_p.L438L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632																																						ENST00000607359.1																			2	Substitution - coding silent(2)	p.L1254L(1)|p.L535L(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3760-3762)Ttg>Ctg		G protein-coupled receptor 123							20.0	19.0	20.0					10																	134942935		2197	4292	6489	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942935T>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1603T>C	10.37:g.134942935T>C						GPR123_ENST00000392607.3_Silent_p.L535L|GPR123_ENST00000392606.2_Silent_p.L438L	p.L1254L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3760	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	535					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.3760T>C	CCDS41580.1																																																																																				0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			16	18	16	18	---	---	---	---
GTF2H1	2965	broad.mit.edu	37	11	18362866	18362866	+	Silent	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363								Nucleotide excision repair (NER)																														ENST00000265963.4																			2	Substitution - coding silent(2)	p.T222T(2)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(664-666)acA>acG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							98.0	94.0	96.0					11																	18362866		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18362866A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.666A>G	11.37:g.18362866A>G						GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000453096.2_Silent_p.T222T	p.T222T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			6	826	+			222			BSD 2.		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.666A>G	CCDS7838.1																																																																																				0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		53	99	53	99	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.M207R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(619-621)aTg>aGg		olfactory receptor, family 9, subfamily Q, member 2							187.0	187.0	187.0					11																	57958582		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958582T>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.620T>G	11.37:g.57958582T>G	ENSP00000308714:p.Met207Arg						p.M207R	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	677	+		Breast(21;0.0589)	207						Missense_Mutation	SNP	ENST00000311591.3	37	c.620T>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580997	0.28180	.	.	ENSG00000186513	ENST00000311591	T	0.37235	1.21	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.225948	0.31392	N	0.007730	T	0.30885	0.0779	L	0.28400	0.85	0.38351	D	0.944334	P	0.40360	0.714	P	0.45428	0.48	T	0.12091	-1.0561	10	0.23891	T	0.37	-33.0798	10.3242	0.43783	0.0:0.08:0.0:0.92	.	207	Q8NGE9	OR9Q2_HUMAN	R	207	ENSP00000308714:M207R	ENSP00000308714:M207R	M	+	2	0	OR9Q2	57715158	0.001000	0.12720	1.000000	0.80357	0.465000	0.32709	1.150000	0.31639	2.201000	0.70794	0.460000	0.39030	ATG		0.488	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		57	95	57	95	---	---	---	---
FGFR1OP2	26127	broad.mit.edu	37	12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84					wound healing (GO:0042060)	cytosol (GO:0005829)		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388																																						ENST00000229395.3																			1	Substitution - Missense(1)	p.K84R(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(250-252)aAa>aGa		FGFR1 oncogene partner 2							87.0	79.0	82.0					12																	27109591		2203	4300	6503	SO:0001583	missense	26127					cytoplasm		g.chr12:27109591A>G	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.251A>G	12.37:g.27109591A>G	ENSP00000229395:p.Lys84Arg					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			3	593	+	Colorectal(261;0.0847)		84					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	c.251A>G	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718837	0.30503	.	.	ENSG00000111790	ENST00000229395;ENST00000546072;ENST00000327214	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.26042	0.785	0.58432	D	0.999996	B;B;B	0.19073	0.033;0.0;0.001	B;B;B	0.17433	0.018;0.011;0.003	T	0.29181	-1.0020	9	0.16420	T	0.52	-12.5033	14.4637	0.67470	1.0:0.0:0.0:0.0	.	84;84;84	Q9NVK5-2;Q9NVK5;Q9NVK5-3	.;FGOP2_HUMAN;.	R	84	.	ENSP00000229395:K84R	K	+	2	0	FGFR1OP2	27000858	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.556000	0.90697	1.961000	0.56991	0.482000	0.46254	AAA		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		35	67	35	67	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			1	Substitution - Missense(1)	p.E736V(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2206-2208)gAa>gTa		GLI family zinc finger 1							83.0	90.0	88.0					12																	57864730		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864730A>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2207A>T	12.37:g.57864730A>T	ENSP00000228682:p.Glu736Val					GLI1_ENST00000543426.1_Missense_Mutation_p.E608V|GLI1_ENST00000546141.1_Missense_Mutation_p.E695V	p.E736V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2298	+			736					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2207A>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194258	0.38806	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.66;2.55;2.63;2.63	4.62	3.43	0.39272	.	0.320957	0.22605	N	0.057906	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	0.999997	B	0.27625	0.183	B	0.22386	0.039	T	0.31251	-0.9950	10	0.27785	T	0.31	.	5.5923	0.17307	0.7352:0.1756:0.0893:0.0	.	736	P08151	GLI1_HUMAN	V	608;736;695;695	ENSP00000437607:E608V;ENSP00000228682:E736V;ENSP00000441006:E695V;ENSP00000434408:E695V	ENSP00000228682:E736V	E	+	2	0	GLI1	56150997	0.000000	0.05858	0.040000	0.18447	0.931000	0.56810	0.055000	0.14229	0.876000	0.35872	0.397000	0.26171	GAA		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		69	129	69	129	---	---	---	---
CEP83	51134	broad.mit.edu	37	12	94763729	94763729	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		331					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333																																						ENST00000397809.5																			1	Substitution - coding silent(1)	p.R339R(1)	prostate(1)	breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1015-1017)agA>agG		coiled-coil domain containing 41							254.0	248.0	250.0					12																	94763729		1927	4154	6081	SO:0001819	synonymous_variant	51134							g.chr12:94763729T>C																												ENST00000397809.5:c.1017A>G	12.37:g.94763729T>C						CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R	p.R339R	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			9	1566	-			331					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.1017A>G	CCDS41820.1																																																																																				0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	411	5	411	---	---	---	---
RNF6	6049	broad.mit.edu	37	13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination. {ECO:0000250}.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408																																						ENST00000381588.4																			1	Substitution - Nonsense(1)	p.Q647*(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1939-1941)Caa>Taa		ring finger protein (C3H2C3 type) 6							157.0	143.0	148.0					13																	26788080		2203	4300	6503	SO:0001587	stop_gained	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788080G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1939C>T	13.37:g.26788080G>A	ENSP00000371000:p.Gln647*					RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron	p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2691	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	647			Required for polyubiquitination (By similarity).		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	c.1939C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	37	6.377626	0.97520	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	5.01	5.01	0.66863	.	0.139939	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8366	13.7959	0.63171	0.0:0.0:0.8468:0.1532	.	.	.	.	X	647;647;647;291	.	ENSP00000342121:Q647X	Q	-	1	0	RNF6	25686080	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.268000	0.58883	2.763000	0.94921	0.557000	0.71058	CAA		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		82	39	82	39	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000544440.2	-	49	7106	c.7089G>A	c.(7087-7089)atG>atA	p.M2363I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M2401I					MYC binding protein 2, E3 ubiquitin protein ligase									p.M2363I(2)|p.M2401I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACGGATCAGCATATTCTCAC	0.368																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.M2363I(2)|p.M2401I(1)	prostate(3)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7201-7203)atG>atA		MYC binding protein 2, E3 ubiquitin protein ligase							155.0	141.0	146.0					13																	77718680		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77718680C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7089G>A	13.37:g.77718680C>T	ENSP00000444596:p.Met2363Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	p.M2401I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	49	7469	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2363						Missense_Mutation	SNP	ENST00000544440.2	37	c.7203G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097820	0.56075	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.83335	-1.71;-1.71;-1.71	5.48	5.48	0.80851	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	L	0.38838	1.175	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.81924	-0.0710	10	0.44086	T	0.13	.	17.5252	0.87798	0.0:1.0:0.0:0.0	.	2363	O75592	MYCB2_HUMAN	I	2363;2401;2363	ENSP00000349892:M2363I;ENSP00000384288:M2401I;ENSP00000444596:M2363I	ENSP00000349892:M2363I	M	-	3	0	MYCBP2	76616681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.580000	0.87095	0.561000	0.74099	ATG		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	106	14	106	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000375547.2	+	7	638	c.631A>C	c.(631-633)Aat>Cat	p.N211H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000342783.4_Missense_Mutation_p.N233H	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303																																						ENST00000342783.4																			1	Substitution - Missense(1)	p.N211H(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(697-699)Aat>Cat		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						60.0	66.0	64.0					13																	113824784		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113824784A>C	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.631A>C	13.37:g.113824784A>C	ENSP00000364697:p.Asn211His					PROZ_ENST00000375547.2_Missense_Mutation_p.N211H|PROZ_ENST00000493630.1_3'UTR	p.N233H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	704	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	211			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.697A>C	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922717	0.18056	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89746	-2.56;-2.56	4.02	-2.29	0.06805	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.358290	0.30455	U	0.009598	D	0.87951	0.6307	L	0.56124	1.755	0.09310	N	1	D;P	0.69078	0.997;0.884	D;B	0.63192	0.912;0.362	T	0.78902	-0.2021	10	0.87932	D	0	.	1.357	0.02184	0.4998:0.1378:0.2286:0.1338	.	233;211	P22891-2;P22891	.;PROZ_HUMAN	H	211;233	ENSP00000364697:N211H;ENSP00000344458:N233H	ENSP00000344458:N233H	N	+	1	0	PROZ	112872785	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.099000	0.15210	-0.776000	0.04578	0.260000	0.18958	AAT		0.303	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		5	70	5	70	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:94004551G>T	ENST00000393151.2	+	12	1339	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	UNC79_ENST00000553484.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	447					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E447*(1)|p.E270*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGCCGTGGAAGCCGTGAT	0.557																																						ENST00000553484.1																			2	Substitution - Nonsense(2)	p.E447*(1)|p.E270*(1)	prostate(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1339-1341)Gaa>Taa		unc-79 homolog (C. elegans)							35.0	33.0	33.0					14																	94004551		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94004551G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1339G>T	14.37:g.94004551G>T	ENSP00000376858:p.Glu447*					UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*	p.E447*			Q9P2D8	UNC79_HUMAN			12	1493	+			447					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.1339G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.058903	0.98032	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1112	14.2719	0.66157	0.072:0.0:0.928:0.0	.	.	.	.	X	270;447;447;447;447	.	ENSP00000256339:E270X	E	+	1	0	KIAA1409	93074304	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.537000	0.98070	1.389000	0.46526	0.561000	0.74099	GAA		0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		16	15	16	15	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294406	31294406	+	Silent	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000256552.6	-	28	4644	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000542188.1_Silent_p.I1516I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478																																						ENST00000542188.1																			1	Substitution - coding silent(1)	p.I1477I(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4546-4548)atC>atT		transient receptor potential cation channel, subfamily M, member 1							225.0	207.0	213.0					15																	31294406		2020	4182	6202	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294406G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4497C>T	15.37:g.31294406G>A						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000256552.6_Silent_p.I1499I	p.I1516I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4861	-		all_lung(180;1.92e-11)	1477						Silent	SNP	ENST00000256552.6	37	c.4548C>T	CCDS58346.1																																																																																				0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	452	12	452	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468																																						ENST00000261839.7																			1	Substitution - Missense(1)	p.V52L(1)	prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(154-156)Gtc>Ctc		myosin VC							40.0	39.0	39.0					15																	52571856		1849	4102	5951	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52571856C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.154G>C	15.37:g.52571856C>G	ENSP00000261839:p.Val52Leu					MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	p.V52L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	3	315	-			52			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.154G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139308	0.09083	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95001	-3.58	5.88	-11.8	0.00035	.	1.030760	0.07670	N	0.935351	D	0.83408	0.5248	N	0.11673	0.155	0.28429	N	0.917331	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.66472	-0.5915	10	0.13470	T	0.59	.	13.6714	0.62427	0.0796:0.6862:0.1587:0.0756	.	15;52	F5H231;Q9NQX4	.;MYO5C_HUMAN	L	52;15	ENSP00000261839:V52L	ENSP00000261839:V52L	V	-	1	0	MYO5C	50359148	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.184000	0.01254	-2.631000	0.00434	0.557000	0.71058	GTC		0.468	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		29	30	29	30	---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30349140	30349140	+	Silent	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000341671.7	+	1	980	c.975A>C	c.(973-975)acA>acC	p.T325T	LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000327564.7_Silent_p.T352T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483																																						ENST00000327564.7																			1	Substitution - coding silent(1)	p.T325T(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1054-1056)acA>acC		leucine rich repeat containing 37B							82.0	89.0	87.0					17																	30349140		2203	4300	6503	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349140A>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.975A>C	17.37:g.30349140A>C						LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000341671.7_Silent_p.T325T	p.T352T			Q96QE4	LR37B_HUMAN			1	1117	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	325					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1056A>C	CCDS32609.1																																																																																				0.483	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		70	105	70	105	---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1			keratin 25									p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353																																						ENST00000312150.4																			1	Substitution - Nonsense(1)	p.Y399*(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1195-1197)taC>taG		keratin 25							154.0	152.0	153.0					17																	38905556		2203	4300	6503	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38905556G>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1197C>G	17.37:g.38905556G>C	ENSP00000310573:p.Tyr399*						p.Y399*	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			7	1257	-		Breast(137;0.00526)	399			Tail.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.1197C>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481049	0.96307	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.79	3.82	0.43975	.	0.483471	0.19444	N	0.114105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1482	0.31124	0.2443:0.0:0.7557:0.0	.	.	.	.	X	328;399	.	ENSP00000310573:Y399X	Y	-	3	2	KRT25	36159082	0.997000	0.39634	0.998000	0.56505	0.977000	0.68977	0.512000	0.22755	0.798000	0.33994	0.591000	0.81541	TAC		0.353	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		12	280	12	280	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000435607.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000578147.1_Missense_Mutation_p.E34D|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCTCCTCCTCCACCGCCC	0.622																																						ENST00000578147.1																			2	Substitution - Missense(2)	p.E34D(2)	prostate(2)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(100-102)gaG>gaC		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						22.0	25.0	24.0					17																	62050100		2104	4214	6318	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62050100C>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.102G>C	17.37:g.62050100C>G	ENSP00000396320:p.Glu34Asp					SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D	p.E34D			P35499	SCN4A_HUMAN			1	178	-			34					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.102G>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497118	0.64186	.	.	ENSG00000007314	ENST00000435607	D	0.96802	-4.13	4.39	3.39	0.38822	.	0.000000	0.64402	D	0.000001	D	0.96247	0.8776	M	0.79805	2.47	0.42629	D	0.993373	B	0.34329	0.449	B	0.42959	0.403	D	0.96290	0.9213	10	0.52906	T	0.07	.	11.7916	0.52073	0.0:0.9116:0.0:0.0884	.	34	P35499	SCN4A_HUMAN	D	34	ENSP00000396320:E34D	ENSP00000396320:E34D	E	-	3	2	SCN4A	59403832	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	1.553000	0.36255	2.283000	0.76528	0.305000	0.20034	GAG		0.622	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		16	22	16	22	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.S504R(2)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|ovary(1)|prostate(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1510-1512)agT>agA		SMAD family member 4							116.0	103.0	107.0					18																	48604690		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604690T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1512T>A	18.37:g.48604690T>A	ENSP00000341551:p.Ser504Arg					SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000586253.1_3'UTR	p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2050	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	504			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1512T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044567	0.55110	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98876	-5.2;-5.2	6.08	1.31	0.21738	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.074457	0.85682	D	0.000000	D	0.99115	0.9695	H	0.95679	3.705	0.80722	D	1	D	0.53885	0.963	P	0.62014	0.897	D	0.99383	1.0923	10	0.87932	D	0	.	9.4918	0.38965	0.0:0.5867:0.0:0.4133	.	504	Q13485	SMAD4_HUMAN	R	504	ENSP00000341551:S504R;ENSP00000381452:S504R	ENSP00000341551:S504R	S	+	3	2	SMAD4	46858688	0.931000	0.31567	1.000000	0.80357	0.999000	0.98932	0.003000	0.13083	0.216000	0.20781	0.533000	0.62120	AGT		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		7	69	7	69	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1058148	1058148	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000435683.2_Silent_p.L1539L|ABCA7_ENST00000433129.1_Silent_p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612																																						ENST00000263094.6																			1	Substitution - coding silent(1)	p.L1677L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5029-5031)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							88.0	84.0	85.0					19																	1058148		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058148C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5029C>T	19.37:g.1058148C>T						ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L	p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	37	5260	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1677					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.5029C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943133	0.18281	.	.	ENSG00000064687	ENST00000525073	.	.	.	4.52	2.34	0.29019	.	.	.	.	.	T	0.56558	0.1993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50955	-0.8766	4	.	.	.	.	8.435	0.32782	0.0:0.7951:0.0:0.2049	.	.	.	.	V	108	.	.	A	+	2	0	ABCA7	1009148	0.172000	0.23043	0.905000	0.35620	0.844000	0.47949	0.740000	0.26188	0.840000	0.34995	0.462000	0.41574	GCT		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		38	10	38	10	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687																																						ENST00000324096.4																			1	Substitution - Missense(1)	p.L227Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(679-681)cTg>cAg		microtubule-associated protein 1S							22.0	24.0	23.0					19																	17836873		2202	4298	6500	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836873T>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.680T>A	19.37:g.17836873T>A	ENSP00000325313:p.Leu227Gln					MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|MAP1S_ENST00000597681.1_Intron	p.L227Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	831	+			227			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.680T>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183598	0.57800	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.39229	1.09;1.09	4.39	4.39	0.52855	.	0.000000	0.37348	N	0.002122	T	0.64349	0.2590	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69316	-0.5177	10	0.87932	D	0	-24.4457	11.5458	0.50693	0.0:0.0:0.0:1.0	.	201;227;227	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	Q	227;201	ENSP00000325313:L227Q;ENSP00000439243:L201Q	ENSP00000325313:L227Q	L	+	2	0	MAP1S	17697873	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	7.864000	0.87037	1.610000	0.50200	0.459000	0.35465	CTG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		32	25	32	25	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622																																						ENST00000291759.4																			1	Substitution - Missense(1)	p.A390V(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1168-1170)gCg>gTg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							153.0	133.0	140.0					19																	54848198		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848198G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1169C>T	19.37:g.54848198G>A	ENSP00000291759:p.Ala390Val					AC008984.2_ENST00000507363.1_RNA	p.A390V	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1225	-	Ovarian(34;0.19)		390			Ig-like C2-type 4.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1169C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880321	0.17467	.	.	ENSG00000239961	ENST00000291759	T	0.03242	4.0	2.51	-3.26	0.05064	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818908	0.10130	N	0.712145	T	0.05135	0.0137	M	0.79343	2.45	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.36432	-0.9748	10	0.48119	T	0.1	.	4.1218	0.10109	0.0:0.3231:0.4021:0.2748	.	390	P59901	LIRA4_HUMAN	V	390	ENSP00000291759:A390V	ENSP00000291759:A390V	A	-	2	0	LILRA4	59540010	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.992000	0.03724	-0.551000	0.06175	-0.519000	0.04390	GCG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		86	130	86	130	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58101497	58101497	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463																																						ENST00000597850.1																			1	Substitution - coding silent(1)	p.V106V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(316-318)gtC>gtT		zinc finger protein interacting with K protein 1							119.0	101.0	107.0					19																	58101497		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101497C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.318C>T	19.37:g.58101497C>T						ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V|ZIK1_ENST00000307468.4_3'UTR	p.V106V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	533	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	106			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.318C>T	CCDS33135.1																																																																																				0.463	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		50	81	50	81	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V466L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCAGGTGGTGTTTGCTGT	0.662																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.V466L(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1396-1398)Gtg>Ttg		myosin, heavy chain 7B, cardiac muscle, beta							57.0	65.0	63.0					20																	33575571		2041	4215	6256	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575571G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1396G>T	20.37:g.33575571G>T	ENSP00000262873:p.Val466Leu						p.V466L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1488	+			424			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1396G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932106	0.18131	.	.	ENSG00000078814	ENST00000262873	D	0.86956	-2.19	3.53	3.53	0.40419	Myosin head, motor domain (2);	0.000000	0.32624	N	0.005849	T	0.75968	0.3922	N	0.17379	0.485	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.69691	-0.5077	10	0.17369	T	0.5	.	13.7951	0.63166	0.0:0.1546:0.8454:0.0	.	424	A7E2Y1	MYH7B_HUMAN	L	466	ENSP00000262873:V466L	ENSP00000262873:V466L	V	+	1	0	MYH7B	33039232	0.967000	0.33354	1.000000	0.80357	0.934000	0.57294	1.492000	0.35594	2.279000	0.76181	0.561000	0.74099	GTG		0.662	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	171	6	171	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45503102	45503102	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572																																						ENST00000291574.4																			1	Substitution - coding silent(1)	p.A719A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2155-2157)gcT>gcC		trafficking protein particle complex 10							89.0	88.0	88.0					21																	45503102		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503102T>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2157T>C	21.37:g.45503102T>C							p.A719A	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2332	+			719					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2157T>C	CCDS13704.1																																																																																				0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		62	217	62	217	---	---	---	---
HDAC6	10013	broad.mit.edu	37	X	48673411	48673411	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y|HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			1	Substitution - Missense(1)	p.H368Y(1)	prostate(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1102-1104)Cac>Tac		histone deacetylase 6	Vorinostat(DB02546)						27.0	24.0	25.0					X																	48673411		2201	4300	6501	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673411C>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1102C>T	X.37:g.48673411C>T	ENSP00000334061:p.His368Tyr					HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y	p.H368Y			Q9UBN7	HDAC6_HUMAN			14	1280	+			368			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1102C>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133573	0.77662	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70282	-0.47;-0.47;-0.47	4.84	4.84	0.62591	Histone deacetylase domain (2);	0.063319	0.64402	D	0.000009	T	0.79452	0.4448	M	0.64567	1.98	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.59948	0.866;0.866	T	0.80654	-0.1286	10	0.52906	T	0.07	-20.8055	14.2428	0.65969	0.0:1.0:0.0:0.0	.	358;368	B4DZN1;Q9UBN7	.;HDAC6_HUMAN	Y	382;368;368;368	ENSP00000398566:H382Y;ENSP00000334061:H368Y;ENSP00000365804:H368Y	ENSP00000334061:H368Y	H	+	1	0	HDAC6	48558355	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	6.810000	0.75216	2.234000	0.73211	0.544000	0.68410	CAC		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		7	6	7	6	---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)tttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(379-381)tttfs		nuclear receptor subfamily 1, group D, member 2							137.0	135.0	135.0					3																	24001168		2203	4300	6503	SO:0001589	frameshift_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24001168delT	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.379delT	3.37:g.24001168delT	ENSP00000310006:p.Phe127fs					NR1D2_ENST00000492552.1_3'UTR	p.F127fs	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN			4	698	+			127					B2R8Q3|O00402|Q86XD4	Frame_Shift_Del	DEL	ENST00000312521.4	37	c.379delT	CCDS33718.1																																																																																				0.358	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			82	127	82	127	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000269305.4	-	6	796	c.607delG	c.(607-609)gtgfs	p.V203fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs	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	203	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(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)	AAATACTCCACACGCAAATTT	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"""		23	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(5)|Deletion - Frameshift(4)|Complex - compound substitution(1)	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)	biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|breast(1)|ovary(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.(607-609)gtgfs	Other conserved DNA damage response genes	tumor protein p53							131.0	116.0	121.0					17																	7578242		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578242delC	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.607delG	17.37:g.7578242delC	ENSP00000269305:p.Val203fs	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_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs	p.V203fs	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	739	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	203		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.607delG	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	13	28	13	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENST00000392485.2	-	2	625_648	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg	p.151_159SRTRSRSRS>S	MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	151	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT	0.661			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		2	Substitution - coding silent(2)	p.R156R(1)|p.R136R(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg		serine/arginine-rich splicing factor 2																																				SO:0001651	inframe_deletion	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.453_476delCCGCACTCGTTCTCGATCTCGGTC	17.37:g.74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENSP00000376276:p.Ser151_Arg158del					RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000588460.1_5'UTR	p.151_159SRTRSRSRS>S	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	625_648	-			151			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	CCDS11749.1																																																																																				0.661	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		25	231	25	231	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)ttcfs	p.F1050fs	ITSN1_ENST00000399355.2_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGCCGGAGTCTTCCCTTCTAA	0.473																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3148-3150)ttcfs		intersectin 1 (SH3 domain protein)							125.0	113.0	117.0					21																	35195922		2203	4300	6503	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35195922delT	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3148delT	21.37:g.35195922delT	ENSP00000370719:p.Phe1050fs					ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs	p.F1050fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			25	3436	+			1050			SH3 3.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.3148delT	CCDS33545.1																																																																																				0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		71	115	71	115	---	---	---	---
