#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
TMEM56	148534	broad.mit.edu	37	1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:95616924A>T	ENST00000370203.4	+	5	639	c.348A>T	c.(346-348)aaA>aaT	p.K116N	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	116	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)		p.K116N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTGGTGACAAATTTTTTATAA	0.348																																						ENST00000370203.4																			1	Substitution - Missense(1)	p.K116N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(346-348)aaA>aaT		transmembrane protein 56							153.0	144.0	148.0					1																	95616924		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95616924A>T		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.348A>T	1.37:g.95616924A>T	ENSP00000359222:p.Lys116Asn					RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	5	639	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	116			TLC.		B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.348A>T	CCDS753.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617331	0.28801	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	D;D;D	0.85411	-1.98;-1.98;-1.98	5.46	-3.47	0.04753	TRAM/LAG1/CLN8 homology domain (3);	0.174809	0.53938	D	0.000054	T	0.60366	0.2263	M	0.62723	1.935	0.46149	D	0.998897	B;B	0.20368	0.02;0.044	B;B	0.21917	0.025;0.037	T	0.31251	-0.9950	9	0.27785	T	0.31	-0.8329	2.9458	0.05846	0.4671:0.111:0.313:0.1088	.	116;116	C9JJM2;Q96MV1	.;TMM56_HUMAN	N	116	ENSP00000359222:K116N;ENSP00000395364:K116N;ENSP00000417043:K116N	ENSP00000359222:K116N	K	+	3	2	TMEM56	95389512	0.880000	0.30214	0.060000	0.19600	0.703000	0.40648	0.499000	0.22546	-0.505000	0.06568	-0.385000	0.06624	AAA		0.348	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		7	188	7	188	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:158736387A>T	ENST00000335094.2	-	1	105	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCAACAAGAGGAAGAGATA	0.502																																						ENST00000335094.2																			1	Substitution - Missense(1)	p.L29H(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(85-87)cTc>cAc		olfactory receptor, family 6, subfamily N, member 1							80.0	78.0	79.0					1																	158736387		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736387A>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.86T>A	1.37:g.158736387A>T	ENSP00000335535:p.Leu29His						p.L29H	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	105	-	all_hematologic(112;0.0378)		29					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.86T>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	A	6.089	0.384657	0.11524	.	.	ENSG00000197403	ENST00000335094	T	0.00458	7.28	5.1	3.98	0.46160	.	1.053140	0.07544	N	0.914356	T	0.00328	0.0010	M	0.84948	2.725	0.09310	N	1	P	0.39624	0.681	B	0.39971	0.315	T	0.47209	-0.9135	10	0.37606	T	0.19	-2.354	9.8994	0.41338	0.9185:0.0:0.0815:0.0	.	29	Q8NGY5	OR6N1_HUMAN	H	29	ENSP00000335535:L29H	ENSP00000335535:L29H	L	-	2	0	OR6N1	157003011	0.000000	0.05858	0.015000	0.15790	0.050000	0.14768	0.318000	0.19504	0.955000	0.37878	0.533000	0.62120	CTC		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		4	88	4	88	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:159038445T>G	ENST00000368130.4	-	3	597	c.309A>C	c.(307-309)caA>caC	p.Q103H	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	103					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.Q103H(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCATTTCAGCTTGACTTAGTG	0.408																																						ENST00000368130.4																			1	Substitution - Missense(1)	p.Q103H(1)	prostate(1)	breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(307-309)caA>caC		absent in melanoma 2							255.0	208.0	224.0					1																	159038445		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159038445T>G	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.309A>C	1.37:g.159038445T>G	ENSP00000357112:p.Gln103His					AIM2_ENST00000411768.1_5'UTR	p.Q103H	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			3	597	-	all_hematologic(112;0.0429)		103					A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.309A>C	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763835	0.31228	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.36878	2.91;1.23	2.51	-0.0424	0.13863	.	.	.	.	.	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	P	0.34977	0.478	B	0.24974	0.057	T	0.23013	-1.0200	9	0.52906	T	0.07	.	2.5303	0.04701	0.0:0.1844:0.2871:0.5285	.	103	O14862	AIM2_HUMAN	H	103	ENSP00000357112:Q103H;ENSP00000405197:Q103H	ENSP00000357112:Q103H	Q	-	3	2	AIM2	157305069	0.039000	0.19947	0.020000	0.16555	0.048000	0.14542	-0.089000	0.11180	-0.027000	0.13873	0.459000	0.35465	CAA		0.408	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		7	266	7	266	---	---	---	---
DTL	51514	broad.mit.edu	37	1	212274088	212274088	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_ENST00000542077.1_Silent_p.L544L|RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	586					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L586L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCTTCATTTGGATCTGTG	0.453																																						ENST00000366991.4																			1	Substitution - coding silent(1)	p.L586L(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1756-1758)Ttg>Ctg		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							120.0	119.0	119.0					1																	212274088		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212274088T>C	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1756T>C	1.37:g.212274088T>C						DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	p.L586L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	2070	+			586					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.1756T>C	CCDS1502.1																																																																																				0.453	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		16	169	16	169	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A	rs374283240		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:29296170G>A	ENST00000331664.5	-	1	957	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	320			R -> C. {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R320C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCAGGAGGCGTTCATCCACA	0.597																																						ENST00000331664.5																			1	Substitution - Missense(1)	p.R320C(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(958-960)Cgc>Tgc		chromosome 2 open reading frame 71		G	CYS/ARG	1,4361		0,1,2180	72.0	79.0	76.0		958	-1.6	0.0	2		76	0,8566		0,0,4283	no	missense	C2orf71	NM_001029883.1	180	0,1,6463	AA,AG,GG		0.0,0.0229,0.0077	benign	320/1289	29296170	1,12927	2181	4283	6464	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296170G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.958C>T	2.37:g.29296170G>A	ENSP00000332809:p.Arg320Cys						p.R320C	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	957	-			320		R -> C.				Missense_Mutation	SNP	ENST00000331664.5	37	c.958C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	4.830	0.154365	0.09236	2.29E-4	0.0	ENSG00000179270	ENST00000331664	T	0.20332	2.08	5.51	-1.64	0.08318	.	0.546755	0.19587	N	0.110712	T	0.08670	0.0215	N	0.03608	-0.345	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.28618	-1.0038	10	0.56958	D	0.05	-0.155	11.4048	0.49892	0.4605:0.0:0.5395:0.0	.	320	A6NGG8	CB071_HUMAN	C	320	ENSP00000332809:R320C	ENSP00000332809:R320C	R	-	1	0	C2orf71	29149674	0.026000	0.19158	0.000000	0.03702	0.017000	0.09413	0.506000	0.22658	-0.177000	0.10690	-0.254000	0.11334	CGC		0.597	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		38	246	38	246	---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:211179711G>A	ENST00000352451.3	-	1	203	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	19					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A19V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		cggtgccggggctggggcAGC	0.502																																						ENST00000352451.3																			1	Substitution - Missense(1)	p.A19V(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(55-57)gCc>gTc		myosin, light chain 1, alkali; skeletal, fast							69.0	100.0	90.0					2																	211179711		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211179711G>A		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.56C>T	2.37:g.211179711G>A	ENSP00000307280:p.Ala19Val						p.A19V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	1	203	-			19					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.56C>T	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021538	0.35701	.	.	ENSG00000168530	ENST00000352451	D	0.86297	-2.1	5.44	5.44	0.79542	.	0.166280	0.38111	N	0.001817	D	0.92179	0.7520	L	0.60845	1.875	0.43381	D	0.995487	D	0.63880	0.993	D	0.68192	0.956	D	0.92313	0.5859	10	0.59425	D	0.04	.	18.8737	0.92327	0.0:0.0:1.0:0.0	.	19	P05976	MYL1_HUMAN	V	19	ENSP00000307280:A19V	ENSP00000307280:A19V	A	-	2	0	MYL1	210887956	1.000000	0.71417	0.965000	0.40720	0.002000	0.02628	6.698000	0.74608	2.556000	0.86216	0.655000	0.94253	GCC		0.502	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		8	91	8	91	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003254	122003254	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr3:122003254G>T	ENST00000490131.1	+	7	2825	c.2453G>T	c.(2452-2454)tGg>tTg	p.W818L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.W828L|CASR_ENST00000296154.5_Missense_Mutation_p.W818L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	818					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.W818L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTCATCGTCTGGATCTCCTTC	0.527																																						ENST00000498619.1																			1	Substitution - Missense(1)	p.W818L(1)	prostate(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2482-2484)tGg>tTg		calcium-sensing receptor	Cinacalcet(DB01012)						93.0	83.0	86.0					3																	122003254		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003254G>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2453G>T	3.37:g.122003254G>T	ENSP00000418685:p.Trp818Leu					CASR_ENST00000490131.1_Missense_Mutation_p.W818L|CASR_ENST00000296154.5_Missense_Mutation_p.W818L	p.W828L	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2921	+			818					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2483G>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219901	0.79464	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.91521	-2.86;-2.86;-2.86	5.89	5.89	0.94794	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97158	0.9071	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97842	1.0269	10	0.87932	D	0	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	828;818	E7ENE0;P41180	.;CASR_HUMAN	L	818;828;818	ENSP00000418685:W818L;ENSP00000420194:W828L;ENSP00000296154:W818L	ENSP00000296154:W818L	W	+	2	0	CASR	123485944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.793000	0.96121	0.561000	0.74099	TGG		0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	156	4	156	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:3148562G>A	ENST00000355072.5	+	25	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1061					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.S1061N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTAGGAAGAGCTGTACCGTT	0.468																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.S1061N(1)	prostate(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3181-3183)aGc>aAc		huntingtin							295.0	295.0	295.0					4																	3148562		1983	4162	6145	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3148562G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3182G>A	4.37:g.3148562G>A	ENSP00000347184:p.Ser1061Asn						p.S1061N	NM_002111.6	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	25	3327	+		all_epithelial(65;0.18)	1061					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.3182G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551627	0.27739	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	4.68	4.68	0.58851	Armadillo-type fold (1);	0.184833	0.56097	D	0.000026	T	0.07324	0.0185	L	0.47716	1.5	0.33280	D	0.562169	B	0.14012	0.009	B	0.09377	0.004	T	0.04307	-1.0961	10	0.33141	T	0.24	.	12.2556	0.54621	0.0821:0.0:0.9179:0.0	.	1061	P42858	HD_HUMAN	N	1061	ENSP00000347184:S1061N	ENSP00000347184:S1061N	S	+	2	0	HTT	3118360	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.785000	0.55424	2.444000	0.82710	0.563000	0.77884	AGC		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		14	637	14	637	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:39064620T>G	ENST00000504108.1	+	1	769	c.486T>G	c.(484-486)agT>agG	p.S162R	KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000261425.3_Missense_Mutation_p.S116R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	162						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S162R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCACTAGTGAAGAAGAAA	0.418																																						ENST00000261425.3																			1	Substitution - Missense(1)	p.S162R(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(346-348)agT>agG		kelch-like family member 5							80.0	85.0	83.0					4																	39064620		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064620T>G	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.486T>G	4.37:g.39064620T>G	ENSP00000423897:p.Ser162Arg					KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron	p.S116R	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			2	500	+			162					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.348T>G	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	T	8.777	0.927320	0.18056	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.72167	-0.45;-0.46;-0.37;-0.39;-0.63	5.54	1.75	0.24633	.	0.178292	0.48286	D	0.000185	T	0.48943	0.1528	N	0.14661	0.345	0.34135	D	0.665661	B;B;B	0.33238	0.403;0.068;0.085	B;B;B	0.35770	0.21;0.016;0.037	T	0.50566	-0.8813	10	0.16420	T	0.52	.	8.6544	0.34055	0.0:0.28:0.0:0.72	.	162;162;162	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	R	196;116;162;162;162;162	ENSP00000261425:S116R;ENSP00000423897:S162R;ENSP00000352716:S162R;ENSP00000371355:S162R;ENSP00000261426:S162R	ENSP00000261425:S116R	S	+	3	2	KLHL5	38741015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.211000	0.32382	0.140000	0.18849	0.533000	0.62120	AGT		0.418	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			6	168	6	168	---	---	---	---
LYSMD3	116068	broad.mit.edu	37	5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C	rs372204142		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:89815106G>C	ENST00000315948.6	-	3	595	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	151						integral component of membrane (GO:0016021)		p.L151V(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTGTAAGCAAGAGAATCATTA	0.393																																						ENST00000315948.6																			1	Substitution - Missense(1)	p.L151V(1)	prostate(1)	breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(451-453)Ctt>Gtt		LysM, putative peptidoglycan-binding, domain containing 3							139.0	131.0	134.0					5																	89815106		1845	4093	5938	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815106G>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.451C>G	5.37:g.89815106G>C	ENSP00000314518:p.Leu151Val					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	p.L151V	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	595	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	151					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.451C>G	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032851	0.07543	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16743	2.32	5.73	0.835	0.18886	.	0.758571	0.12364	N	0.475399	T	0.09468	0.0233	L	0.36672	1.1	0.09310	N	1	B	0.29716	0.255	B	0.21917	0.037	T	0.31081	-0.9956	10	0.27785	T	0.31	-2.034	1.0044	0.01484	0.3312:0.1479:0.3685:0.1524	.	151	Q7Z3D4	LYSM3_HUMAN	V	151	ENSP00000314518:L151V	ENSP00000314518:L151V	L	-	1	0	AC027323.1;LYSMD3	89850862	0.981000	0.34729	0.155000	0.22561	0.884000	0.51177	1.045000	0.30341	0.062000	0.16340	-0.218000	0.12543	CTT		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		4	197	4	197	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140237082	140237082	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A483A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662																																						ENST00000307360.5																			2	Substitution - coding silent(2)	p.A483A(2)	prostate(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1447-1449)gcG>gcA									83.0	82.0	82.0					5																	140237082		2196	4273	6469	SO:0001819	synonymous_variant	56139							g.chr5:140237082G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1449G>A	5.37:g.140237082G>A						PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A483A	NM_018901.2	NP_061724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1449	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1449G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		6	210	6	210	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682																																						ENST00000394576.2																			2	Substitution - coding silent(2)	p.T628T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1882-1884)acG>acA									35.0	42.0	40.0					5																	140720422		2198	4289	6487	SO:0001819	synonymous_variant	56113							g.chr5:140720422G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1884G>A	5.37:g.140720422G>A						PCDHGA1_ENST00000517417.1_Intron	p.T628T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1884	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1884G>A	CCDS47289.1																																																																																				0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	154	14	154	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794395	140794395	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	551	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S551S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597																																						ENST00000398610.2																			1	Substitution - coding silent(1)	p.S551S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1651-1653)tcG>tcA									187.0	203.0	198.0					5																	140794395		2203	4300	6503	SO:0001819	synonymous_variant	56106							g.chr5:140794395G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1653G>A	5.37:g.140794395G>A						PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.S551S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1653	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1653G>A	CCDS47292.1																																																																																				0.597	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		10	329	10	329	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:150928993T>C	ENST00000261800.5	-	8	4664	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1551	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1551R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGTGGGTGGAGGTTTCC	0.567																																						ENST00000261800.5																			1	Substitution - Missense(1)	p.H1551R(1)	prostate(1)	NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4651-4653)cAc>cGc		FAT atypical cadherin 2							77.0	70.0	73.0					5																	150928993		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150928993T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4652A>G	5.37:g.150928993T>C	ENSP00000261800:p.His1551Arg						p.H1551R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4664	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1551			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4652A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634073	0.67130	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.62660	0.2446	M	0.79475	2.455	0.58432	D	0.999999	P	0.52170	0.951	P	0.45406	0.479	T	0.67581	-0.5634	10	0.41790	T	0.15	.	14.386	0.66945	0.0:0.0:0.0:1.0	.	1551	Q9NYQ8	FAT2_HUMAN	R	1551	ENSP00000261800:H1551R	ENSP00000261800:H1551R	H	-	2	0	FAT2	150909186	1.000000	0.71417	0.989000	0.46669	0.619000	0.37552	7.541000	0.82084	1.856000	0.53863	0.459000	0.35465	CAC		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	94	7	94	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:66205045T>C	ENST00000370621.3	-	4	785	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000503581.1_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	87					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I87V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACAAGGATATCTCCTAAT	0.363																																						ENST00000503581.1																			2	Substitution - Missense(2)	p.I87V(2)	prostate(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(259-261)Atc>Gtc		eyes shut homolog (Drosophila)							80.0	82.0	81.0					6																	66205045		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205045T>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.259A>G	6.37:g.66205045T>C	ENSP00000359655:p.Ile87Val					EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V	p.I87V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	796	-			87					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.259A>G		.	.	.	.	.	.	.	.	.	.	T	4.115	0.019591	0.08006	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89552	-1.55;-1.54;-1.54;-2.53;-2.49;-2.49	4.92	0.74	0.18330	.	.	.	.	.	T	0.58221	0.2107	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17667	0.004;0.023;0.013	B;B;B	0.17433	0.007;0.018;0.008	T	0.48317	-0.9046	9	0.17369	T	0.5	.	3.9602	0.09407	0.1542:0.1777:0.0:0.6681	.	87;87;87	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	87	ENSP00000424243:I87V;ENSP00000359655:I87V;ENSP00000359650:I87V;ENSP00000377042:I87V;ENSP00000341818:I87V;ENSP00000359652:I87V	ENSP00000341818:I87V	I	-	1	0	EYS	66261766	0.064000	0.20934	0.018000	0.16275	0.466000	0.32739	0.845000	0.27668	0.275000	0.22094	-0.326000	0.08463	ATC		0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	228	7	228	---	---	---	---
MEOX2	4223	broad.mit.edu	37	7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:15725595C>T	ENST00000262041.5	-	1	842	c.433G>A	c.(433-435)Gcg>Acg	p.A145T	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 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)|sequence-specific DNA binding (GO:0043565)	p.A145T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCCCGGCGCGCACGCGGCC	0.711																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			1	Substitution - Missense(1)	p.A145T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(433-435)Gcg>Acg		mesenchyme homeobox 2							27.0	33.0	31.0					7																	15725595		2182	4263	6445	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725595C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.433G>A	7.37:g.15725595C>T	ENSP00000262041:p.Ala145Thr						p.A145T	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	842	-			145					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.433G>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849760	0.51270	.	.	ENSG00000106511	ENST00000262041	D	0.90197	-2.63	5.43	4.55	0.56014	.	0.196724	0.43260	D	0.000596	T	0.78240	0.4252	N	0.08118	0	0.40630	D	0.981842	B	0.31519	0.327	B	0.17433	0.018	T	0.75654	-0.3243	10	0.12766	T	0.61	-4.8568	15.8844	0.79232	0.0:0.8555:0.1445:0.0	.	145	P50222	MEOX2_HUMAN	T	145	ENSP00000262041:A145T	ENSP00000262041:A145T	A	-	1	0	MEOX2	15692120	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.217000	0.58547	1.282000	0.44496	0.655000	0.94253	GCG		0.711	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		5	219	5	219	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484982	43484982	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:43484982C>T	ENST00000395891.2	+	11	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_ENST00000453890.1_Silent_p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	737					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D737D(2)|p.D716D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTCGCAAGACGACGAGGAGG	0.652																																						ENST00000395891.2																			3	Substitution - coding silent(3)	p.D737D(2)|p.D716D(1)	prostate(3)	NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2209-2211)gaC>gaT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							67.0	72.0	70.0					7																	43484982		2113	4222	6335	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484982C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2211C>T	7.37:g.43484982C>T						HECW1_ENST00000453890.1_Silent_p.D737D	p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2816	+								A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2211C>T	CCDS5469.2																																																																																				0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		76	122	76	122	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:138603105C>G	ENST00000422774.1	-	2	1315	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P			Q9HCM3	K1549_HUMAN	KIAA1549	423						integral component of membrane (GO:0016021)		p.A423P(1)|p.A373P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGTGCAGGCCGCACACCAA	0.562			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	2	Substitution - Missense(2)	p.A423P(1)|p.A373P(1)	prostate(2)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1267-1269)Gcc>Ccc		KIAA1549							110.0	108.0	109.0					7																	138603105		2078	4214	6292	SO:0001583	missense	57670					integral to membrane		g.chr7:138603105C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1267G>C	7.37:g.138603105C>G	ENSP00000416040:p.Ala423Pro					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P	p.A423P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1315	-			423					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1267G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288064	0.23478	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23754	1.89;1.9;1.89	4.85	2.45	0.29901	.	0.847527	0.10288	N	0.692712	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	P;P	0.41265	0.627;0.744	B;B	0.34652	0.091;0.187	T	0.11397	-1.0589	10	0.32370	T	0.25	.	6.1281	0.20189	0.7423:0.171:0.0867:0.0	.	423;423	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	423;373;423	ENSP00000406661:A423P;ENSP00000242365:A373P;ENSP00000416040:A423P	ENSP00000242365:A373P	A	-	1	0	KIAA1549	138253645	0.162000	0.22906	0.244000	0.24202	0.008000	0.06430	0.814000	0.27239	0.897000	0.36392	-0.262000	0.10625	GCC		0.562	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			57	80	57	80	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512																																						ENST00000408906.2																			1	Substitution - Missense(1)	p.M136I(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(406-408)atG>atA		olfactory receptor, family 2, subfamily A, member 5							187.0	193.0	191.0					7																	143747902		2128	4247	6375	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747902G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.408G>A	7.37:g.143747902G>A	ENSP00000386208:p.Met136Ile						p.M136I	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	442	+	Melanoma(164;0.0783)		136					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.408G>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190889	0.21954	.	.	ENSG00000221836	ENST00000408906	T	0.00551	6.65	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001688	T	0.01156	0.0038	M	0.83223	2.63	0.29425	N	0.860251	B	0.20164	0.042	B	0.23852	0.049	T	0.07986	-1.0744	10	0.72032	D	0.01	.	16.3726	0.83370	0.0:0.0:1.0:0.0	.	136	Q96R48	OR2A5_HUMAN	I	136	ENSP00000386208:M136I	ENSP00000386208:M136I	M	+	3	0	OR2A5	143378835	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.248000	0.58760	2.728000	0.93425	0.557000	0.71058	ATG		0.512	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			7	441	7	441	---	---	---	---
ZNF783	100289678	broad.mit.edu	37	7	148979201	148979201	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:148979201T>A	ENST00000434415.1	+	6	1571	c.1408T>A	c.(1408-1410)Tac>Aac	p.Y470N	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y470N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGCCTGCCCCTACTGCGGCAA	0.706																																						ENST00000434415.1																			1	Substitution - Missense(1)	p.Y470N(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1408-1410)Tac>Aac		zinc finger family member 783							11.0	14.0	13.0					7																	148979201		2110	4174	6284	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148979201T>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1408T>A	7.37:g.148979201T>A	ENSP00000410890:p.Tyr470Asn					ZNF783_ENST00000489518.1_Intron	p.Y470N	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1571	+	Melanoma(164;0.15)		470					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1408T>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848173	0.51164	.	.	ENSG00000204946	ENST00000434415	T	0.15256	2.44	4.37	3.23	0.37069	.	.	.	.	.	T	0.18923	0.0454	L	0.45422	1.42	0.80722	D	1	.	.	.	.	.	.	T	0.03374	-1.1043	7	0.56958	D	0.05	.	4.3834	0.11305	0.0:0.1046:0.2029:0.6925	.	.	.	.	N	470	ENSP00000410890:Y470N	ENSP00000410890:Y470N	Y	+	1	0	ZNF783	148610134	0.000000	0.05858	1.000000	0.80357	0.942000	0.58702	-1.634000	0.02020	0.855000	0.35359	0.379000	0.24179	TAC		0.706	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		7	41	7	41	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:73480433A>T	ENST00000523207.1	+	2	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	155					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E155V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGAGGCGAGAGGCAGAGACT	0.453																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.E155V(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(463-465)gAg>gTg		potassium voltage-gated channel, Shab-related subfamily, member 2							134.0	141.0	138.0					8																	73480433		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480433A>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.464A>T	8.37:g.73480433A>T	ENSP00000430846:p.Glu155Val						p.E155V	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1052	+	Breast(64;0.137)		155					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.464A>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419981	0.83559	.	.	ENSG00000182674	ENST00000523207	D	0.97752	-4.52	6.07	6.07	0.98685	.	0.000000	0.33813	U	0.004527	D	0.96716	0.8928	L	0.58101	1.795	0.80722	D	1	P	0.34462	0.454	B	0.37601	0.254	D	0.96476	0.9352	10	0.66056	D	0.02	.	16.3141	0.82909	1.0:0.0:0.0:0.0	.	155	Q92953	KCNB2_HUMAN	V	155	ENSP00000430846:E155V	ENSP00000430846:E155V	E	+	2	0	KCNB2	73642987	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	GAG		0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	185	9	185	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	rs140782427		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:97156855G>A	ENST00000287020.5	-	2	1403	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	435					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.A435V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATTATTGCCCGCGTCGATGTA	0.602																																						ENST00000287020.5																			1	Substitution - Missense(1)	p.A435V(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1303-1305)gCg>gTg		growth differentiation factor 6		G	VAL/ALA	0,4406		0,0,2203	51.0	58.0	56.0		1304	5.1	1.0	8	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GDF6	NM_001001557.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	435/456	97156855	2,13004	2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156855G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1304C>T	8.37:g.97156855G>A	ENSP00000287020:p.Ala435Val						p.A435V	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1403	-	Breast(36;2.67e-05)		435					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1304C>T	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156405	0.94686	0.0	2.33E-4	ENSG00000156466	ENST00000287020	D	0.84223	-1.82	5.09	5.09	0.68999	Transforming growth factor-beta, C-terminal (3);	0.149370	0.46758	D	0.000273	D	0.89350	0.6690	L	0.41356	1.27	0.49687	D	0.999817	D	0.89917	1.0	D	0.74348	0.983	D	0.89845	0.4005	10	0.59425	D	0.04	.	18.3175	0.90226	0.0:0.0:1.0:0.0	.	435	Q6KF10	GDF6_HUMAN	V	435	ENSP00000287020:A435V	ENSP00000287020:A435V	A	-	2	0	GDF6	97226031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.648000	0.89879	0.650000	0.86243	GCG		0.602	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		7	56	7	56	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15744747	15744747	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:15744747A>G	ENST00000380701.3	+	17	2854	c.2526A>G	c.(2524-2526)ggA>ggG	p.G842G	CCDC171_ENST00000297641.3_Silent_p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	842								p.G842G(1)|p.G109G(1)									TGTGCACAGGAGAGCCCCAAG	0.398																																						ENST00000380701.3																			2	Substitution - coding silent(2)	p.G842G(1)|p.G109G(1)	prostate(2)								c.(2524-2526)ggA>ggG		coiled-coil domain containing 171							60.0	58.0	58.0					9																	15744747		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15744747A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2526A>G	9.37:g.15744747A>G						CCDC171_ENST00000297641.3_Silent_p.G842G	p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			17	2854	+			842					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2526A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	5.424	0.263440	0.10294	.	.	ENSG00000164989	ENST00000449575	.	.	.	5.46	4.33	0.51752	.	.	.	.	.	T	0.59865	0.2225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56498	-0.7969	4	.	.	.	-21.3302	9.6282	0.39763	0.8513:0.0:0.1487:0.0	.	.	.	.	G	82	.	.	E	+	2	0	C9orf93	15734747	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.556000	0.53734	1.032000	0.39892	0.383000	0.25322	GAG		0.398	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		34	57	34	57	---	---	---	---
IFNA10	3446	broad.mit.edu	37	9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:21206631C>G	ENST00000357374.2	-	1	511	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	156					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.E156Q(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448																																						ENST00000357374.2																			1	Substitution - Missense(1)	p.E156Q(1)	prostate(1)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(466-468)Gag>Cag		interferon, alpha 10							271.0	275.0	274.0					9																	21206631		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206631C>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.466G>C	9.37:g.21206631C>G	ENSP00000369566:p.Glu156Gln						p.E156Q	NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	511	-			156					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.466G>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.88	2.963784	0.53507	.	.	ENSG00000186803	ENST00000357374	T	0.06849	3.25	3.75	3.75	0.43078	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.361767	0.28834	N	0.014000	T	0.32010	0.0815	M	0.88450	2.955	0.21499	N	0.999666	P	0.48694	0.914	D	0.64776	0.929	T	0.08722	-1.0708	10	0.87932	D	0	.	12.9165	0.58209	0.0:1.0:0.0:0.0	.	156	P01566	IFN10_HUMAN	Q	156	ENSP00000369566:E156Q	ENSP00000369566:E156Q	E	-	1	0	IFNA10	21196631	0.002000	0.14202	0.043000	0.18650	0.116000	0.19942	0.321000	0.19558	1.806000	0.52798	0.499000	0.49734	GAG		0.448	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		8	723	8	723	---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	75							metal ion binding (GO:0046872)	p.G75S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGTAGTGCCGGCCGCGCAGC	0.652																																						ENST00000242315.3																			1	Substitution - Missense(1)	p.G75S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(223-225)Ggc>Agc		KIAA1045							63.0	77.0	72.0					9																	34971518		2015	4171	6186	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971518G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.223G>A	9.37:g.34971518G>A	ENSP00000242315:p.Gly75Ser					KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	p.G75S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	305	+			75					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.223G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.482556	0.26598	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	-3.52	0.04682	.	0.378441	0.29300	N	0.012555	T	0.12518	0.0304	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	.	.	.	-8.1762	5.543	0.17049	0.3647:0.4597:0.0646:0.1109	.	75	Q9UPV7	K1045_HUMAN	S	75	.	.	G	+	1	0	KIAA1045	34961518	0.088000	0.21588	0.001000	0.08648	0.027000	0.11550	0.890000	0.28295	-0.455000	0.07054	-1.261000	0.01458	GGC		0.652	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		67	103	67	103	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	318	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D318N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGCAAGGTGGACCTGCGGCG	0.652																																						ENST00000339463.3																			2	Substitution - Missense(2)	p.D318N(2)	ovary(1)|prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(952-954)Gac>Aac		growth factor independent 1B transcription repressor							91.0	77.0	81.0					9																	135866396		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866396G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.952G>A	9.37:g.135866396G>A	ENSP00000344782:p.Asp318Asn					GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N	p.D318N			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1771	+			318			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.952G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300935	0.95601	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.35973	1.28;3.06;3.06;1.28;1.28;3.06	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	N	0.20685	0.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.23976	-1.0173	10	0.18710	T	0.47	-38.7799	17.6439	0.88144	0.0:0.0:1.0:0.0	.	272;318	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	272;318;318;272;272;318	ENSP00000361197:D272N;ENSP00000344782:D318N;ENSP00000409546:D318N;ENSP00000446134:D272N;ENSP00000361196:D272N;ENSP00000361195:D318N	ENSP00000344782:D318N	D	+	1	0	GFI1B	134856217	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.823000	0.86660	2.482000	0.83794	0.462000	0.41574	GAC		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		35	128	35	128	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A	rs200176236		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:50835688G>A	ENST00000337653.2	+	7	1121	c.968G>A	c.(967-969)cGt>cAt	p.R323H	CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H|CHAT_ENST00000395562.2_Missense_Mutation_p.R241H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					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.R323H(2)		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)	AATTTCCGCCGTCTCAGTGAG	0.512																																						ENST00000395562.2																			2	Substitution - Missense(2)	p.R323H(2)	prostate(1)|central_nervous_system(1)	central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(721-723)cGt>cAt		choline O-acetyltransferase	Choline(DB00122)						216.0	182.0	194.0					10																	50835688		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835688G>A	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.968G>A	10.37:g.50835688G>A	ENSP00000337103:p.Arg323His					CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H	p.R241H	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1191	+		all_neural(218;0.107)	323					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.722G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387473	0.95988	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	0.986;1.0	B;D	0.72338	0.37;0.977	D	0.87755	0.2594	10	0.44086	T	0.13	-10.1192	19.6873	0.95984	0.0:0.0:1.0:0.0	.	205;323	F8W8I2;P28329	.;CLAT_HUMAN	H	205;205;205;323;241;205	ENSP00000343486:R205H;ENSP00000345878:R205H;ENSP00000378926:R205H;ENSP00000337103:R323H;ENSP00000378929:R241H;ENSP00000390521:R205H	ENSP00000337103:R323H	R	+	2	0	CHAT	50505694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.647000	0.89833	0.579000	0.79373	CGT		0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		10	380	10	380	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:97192294A>T	ENST00000361941.3	-	4	238	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000371247.2_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V71E(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCGGAGAGTCACCGCTCCCTT	0.517																																						ENST00000371247.2																			2	Substitution - Missense(2)	p.V71E(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(211-213)gTg>gAg		sorbin and SH3 domain containing 1							90.0	94.0	93.0					10																	97192294		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97192294A>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.212T>A	10.37:g.97192294A>T	ENSP00000355136:p.Val71Glu					SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E	p.V71E			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	6	401	-		Colorectal(252;0.0429)	71						Missense_Mutation	SNP	ENST00000361941.3	37	c.212T>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412570	0.83340	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	2.44;1.95;2.1;2.15;2.01;2.48;1.94;2.44;1.79;2.15;2.48;1.83;1.94;2.04	5.75	5.75	0.90469	.	0.240780	0.21565	N	0.072503	T	0.40767	0.1130	L	0.32530	0.975	0.24962	N	0.991728	D;P;D;D;D;D;D;D;D;D;D;D	0.89917	0.977;0.856;0.999;1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999	P;B;D;D;D;D;D;D;D;D;D;D	0.91635	0.726;0.31;0.998;0.999;0.999;0.999;0.999;0.999;0.998;0.998;0.999;0.999	T	0.29243	-1.0018	10	0.87932	D	0	-9.5781	13.8	0.63194	1.0:0.0:0.0:0.0	.	39;39;39;71;39;71;39;39;71;71;71;71	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	E	71;71;39;71;71;71;71;71;71;71;71;39;71;39	ENSP00000360291:V71E;ENSP00000302556:V71E;ENSP00000360295:V39E;ENSP00000360293:V71E;ENSP00000360271:V71E;ENSP00000360292:V71E;ENSP00000377521:V71E;ENSP00000343998:V71E;ENSP00000277985:V71E;ENSP00000355136:V71E;ENSP00000277982:V71E;ENSP00000360285:V39E;ENSP00000277984:V71E;ENSP00000360283:V39E	ENSP00000277982:V71E	V	-	2	0	SORBS1	97182284	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	5.860000	0.69546	2.185000	0.69588	0.533000	0.62120	GTG		0.517	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			4	128	4	128	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105798243	105798243	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:105798243G>A	ENST00000353479.5	-	45	3281	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	COL17A1_ENST00000369733.3_Silent_p.P952P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	997	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P997P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCCAGGGGGCCCTGGCG	0.602																																						ENST00000353479.5																			1	Substitution - coding silent(1)	p.P997P(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2989-2991)ccC>ccT		collagen, type XVII, alpha 1							69.0	80.0	76.0					10																	105798243		2196	4293	6489	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798243G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2991C>T	10.37:g.105798243G>A						COL17A1_ENST00000369733.3_Silent_p.P952P	p.P997P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3281	-		Colorectal(252;0.103)|Breast(234;0.122)	997			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.2991C>T	CCDS7554.1																																																																																				0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		15	340	15	340	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T	rs202188584		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - Missense(1)	p.R694W(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2080-2082)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 3							130.0	117.0	121.0					10																	106959827		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106959827C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2080C>T	10.37:g.106959827C>T	ENSP00000358715:p.Arg694Trp					SORCS3_ENST00000369699.4_5'UTR	p.R694W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	15	2307	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	694					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2080C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181442	0.78677	.	.	ENSG00000156395	ENST00000369701	T	0.29655	1.56	6.07	4.23	0.50019	VPS10 (1);	0.057204	0.64402	N	0.000002	T	0.58666	0.2138	M	0.91406	3.205	0.49798	D	0.999822	D	0.89917	1.0	D	0.68621	0.959	T	0.63435	-0.6638	9	.	.	.	.	8.3777	0.32453	0.1237:0.759:0.0:0.1173	.	694	Q9UPU3	SORC3_HUMAN	W	694	ENSP00000358715:R694W	.	R	+	1	2	SORCS3	106949817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.203000	0.32284	0.903000	0.36546	0.650000	0.86243	CGG		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		7	214	7	214	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C	rs374240376		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:115986961A>C	ENST00000251864.2	+	23	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369280.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1102					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.K1102N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGTTGAGAAATGTTCTGAGA	0.343																																						ENST00000251864.2																			1	Substitution - Missense(1)	p.K1102N(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3304-3306)aaA>aaC		tudor domain containing 1							140.0	127.0	132.0					10																	115986961		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115986961A>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3306A>C	10.37:g.115986961A>C	ENSP00000251864:p.Lys1102Asn					TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369282.1_Intron	p.K1102N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	23	3459	+		Colorectal(252;0.172)|Breast(234;0.188)	1102					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000251864.2	37	c.3306A>C	CCDS7588.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004884	0.54254	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.19806	2.93;2.12	6.07	-2.87	0.05700	.	0.000000	0.64402	D	0.000002	T	0.36110	0.0955	M	0.66939	2.045	0.50813	D	0.999894	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.994;0.994;0.997;0.999	T	0.17258	-1.0375	10	0.25106	T	0.35	-27.0998	12.2541	0.54615	0.7494:0.0:0.2506:0.0	.	1102;988;1102;988	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	N	1102;988	ENSP00000251864:K1102N;ENSP00000358287:K988N	ENSP00000251864:K1102N	K	+	3	2	TDRD1	115976951	0.000000	0.05858	0.898000	0.35279	0.652000	0.38707	-1.088000	0.03379	-0.313000	0.08728	0.528000	0.53228	AAA		0.343	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				72	130	72	130	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14535392	14535392	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:14535392C>A	ENST00000396394.2	-	6	781	c.385G>T	c.(385-387)Ggt>Tgt	p.G129C	PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C|PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000530457.1_Missense_Mutation_p.G104C	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.G135C(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGACCAACACCATATGGTCTC	0.308																																						ENST00000530457.1																			1	Substitution - Missense(1)	p.G135C(1)	prostate(1)	large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(310-312)Ggt>Tgt		proteasome (prosome, macropain) subunit, alpha type, 1							70.0	69.0	69.0					11																	14535392		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14535392C>A	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.385G>T	11.37:g.14535392C>A	ENSP00000379676:p.Gly129Cys					PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000396394.2_Missense_Mutation_p.G129C|PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C	p.G104C			P25786	PSA1_HUMAN			6	840	-			129					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.310G>T	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830213	0.91036	.	.	ENSG00000129084	ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87806	0.2628	10	0.87932	D	0	-21.1684	19.5083	0.95130	0.0:1.0:0.0:0.0	.	135;129	P25786-2;P25786	.;PSA1_HUMAN	C	129;129;104;135	ENSP00000379676:G129C;ENSP00000379675:G129C;ENSP00000441166:G104C;ENSP00000414359:G135C	ENSP00000379675:G129C	G	-	1	0	PSMA1	14491968	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.363000	0.66104	2.611000	0.88343	0.591000	0.81541	GGT		0.308	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		3	69	3	69	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:55587401T>C	ENST00000333976.4	+	1	316	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V99A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTAGGATGCGTAGTACAATTC	0.428																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.V99A(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(295-297)gTa>gCa		olfactory receptor, family 5, subfamily D, member 18							201.0	200.0	201.0					11																	55587401		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587401T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.296T>C	11.37:g.55587401T>C	ENSP00000335025:p.Val99Ala						p.V99A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	316	+		all_epithelial(135;0.208)	99					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.296T>C	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.291	0.053304	0.08291	.	.	ENSG00000186119	ENST00000333976	T	0.00421	7.46	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	1.113020	0.07001	N	0.823279	T	0.00178	0.0005	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.21042	-1.0257	10	0.02654	T	1	-1.4866	13.8707	0.63617	0.0:0.0:0.0:1.0	.	99	Q8NGL1	OR5DI_HUMAN	A	99	ENSP00000335025:V99A	ENSP00000335025:V99A	V	+	2	0	OR5D18	55343977	0.033000	0.19621	0.002000	0.10522	0.025000	0.11179	2.067000	0.41461	2.031000	0.59945	0.514000	0.50259	GTA		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		9	502	9	502	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:59225135C>G	ENST00000300127.2	+	1	725	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGGGCGGAACAAGGCCCTCT	0.587																																						ENST00000300127.2																			1	Substitution - Missense(1)	p.N234K(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(700-702)aaC>aaG		olfactory receptor, family 4, subfamily D, member 6							122.0	108.0	112.0					11																	59225135		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225135C>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.702C>G	11.37:g.59225135C>G	ENSP00000300127:p.Asn234Lys						p.N234K	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	725	+			234					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.702C>G	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013371	0.07912	.	.	ENSG00000166884	ENST00000300127	T	0.00048	8.82	6.01	-3.83	0.04269	GPCR, rhodopsin-like superfamily (1);	0.732683	0.12575	N	0.456930	T	0.00039	0.0001	N	0.01464	-0.85	0.22266	N	0.999244	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.54805	T	0.06	-0.9314	3.3338	0.07093	0.3732:0.1654:0.3419:0.1195	.	234	Q8NGJ1	OR4D6_HUMAN	K	234	ENSP00000300127:N234K	ENSP00000300127:N234K	N	+	3	2	OR4D6	58981711	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.698000	0.00826	-1.149000	0.02843	-0.140000	0.14226	AAC		0.587	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		4	149	4	149	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:65123520G>C	ENST00000309880.5	+	2	448	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	81	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E81Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627																																						ENST00000309880.5																			1	Substitution - Missense(1)	p.E81Q(1)	prostate(1)	endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(241-243)Gag>Cag		tigger transposable element derived 3							75.0	84.0	81.0					11																	65123520		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123520G>C		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.241G>C	11.37:g.65123520G>C	ENSP00000308354:p.Glu81Gln						p.E81Q	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	448	+			81			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000309880.5	37	c.241G>C	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165632	0.78339	.	.	ENSG00000173825	ENST00000309880	T	0.15603	2.41	4.48	4.48	0.54585	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.34777	N	0.003693	T	0.31040	0.0784	L	0.43598	1.365	0.36307	D	0.857428	D	0.76494	0.999	D	0.83275	0.996	T	0.10636	-1.0621	10	0.25106	T	0.35	-24.7315	13.4248	0.61020	0.0:0.0:1.0:0.0	.	81	Q6B0B8	TIGD3_HUMAN	Q	81	ENSP00000308354:E81Q	ENSP00000308354:E81Q	E	+	1	0	TIGD3	64880096	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.010000	0.57117	2.453000	0.82957	0.456000	0.33151	GAG		0.627	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		9	172	9	172	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92088335	92088335	+	Silent	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1019	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1019V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCGGCCTGTCTCTCTGTCAT	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - coding silent(2)	p.V1019V(2)	prostate(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3055-3057)gtC>gtA		FAT atypical cadherin 3							95.0	95.0	95.0					11																	92088335		1951	4150	6101	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088335C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3057C>A	11.37:g.92088335C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V	p.V1019V			Q8TDW7	FAT3_HUMAN			1	3074	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1019			Cadherin 9.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3057C>A																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	82	4	82	---	---	---	---
CASP1	834	broad.mit.edu	37	11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	331					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.C331W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GTGTGGAAGAGCAGAAAGCGA	0.408																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.C331W(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(991-993)tgC>tgG		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						117.0	109.0	112.0					11																	104899864		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899864G>C	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.993C>G	11.37:g.104899864G>C	ENSP00000433138:p.Cys331Trp					CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W	p.C331W	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	1028	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	331					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.993C>G	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.048170	0.36181	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.34	1.32	0.21799	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.317456	0.35677	N	0.003052	T	0.35278	0.0926	M	0.64404	1.975	0.45979	D	0.998798	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;0.997;1.0	D;D;D;D;D;D	0.78314	0.991;0.985;0.974;0.985;0.974;0.983	T	0.05683	-1.0870	10	0.51188	T	0.08	.	5.7343	0.18057	0.4611:0.0:0.5389:0.0	.	292;331;310;331;294;238	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	W	180;238;294;331;331;310;310;292	ENSP00000435536:C180W;ENSP00000434250:C238W;ENSP00000432340:C294W;ENSP00000433138:C331W;ENSP00000410076:C331W;ENSP00000376844:C310W;ENSP00000434779:C310W;ENSP00000434259:C292W	ENSP00000376844:C310W	C	-	3	2	CASP1	104405074	0.827000	0.29292	1.000000	0.80357	0.729000	0.41735	-0.216000	0.09266	0.520000	0.28426	0.557000	0.71058	TGC		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		13	106	13	106	---	---	---	---
BACE1	23621	broad.mit.edu	37	11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T|AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	68					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.R68T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGACTTGCCCCTCAGGTTGTC	0.711																																						ENST00000313005.6																			1	Substitution - Missense(1)	p.R68T(1)	prostate(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(202-204)aGg>aCg		beta-site APP-cleaving enzyme 1							49.0	47.0	48.0					11																	117186309		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117186309C>G	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.203G>C	11.37:g.117186309C>G	ENSP00000318585:p.Arg68Thr					BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T	p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	1	663	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	68					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.203G>C	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902539	0.92035	.	.	ENSG00000186318	ENST00000313005;ENST00000528053;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.99	4.99	0.66335	Peptidase aspartic (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	L	0.55481	1.735	0.80722	D	1	D;B;B;B;D	0.71674	0.993;0.301;0.104;0.335;0.998	D;B;B;B;D	0.72338	0.977;0.137;0.171;0.259;0.943	T	0.49542	-0.8929	10	0.15499	T	0.54	.	15.7488	0.77967	0.0:1.0:0.0:0.0	.	68;68;68;68;68	Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;BACE1_HUMAN;.;.;.	T	68	ENSP00000318585:R68T;ENSP00000431848:R68T;ENSP00000402228:R68T;ENSP00000424536:R68T;ENSP00000403685:R68T	ENSP00000318585:R68T	R	-	2	0	BACE1	116691519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.118000	0.57884	2.302000	0.77476	0.655000	0.94253	AGG		0.711	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			12	31	12	31	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	986					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E637*(2)|p.E986*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGCAATTCTACTTCTTCA	0.478																																						ENST00000310343.9																			3	Substitution - Nonsense(3)	p.E637*(2)|p.E986*(1)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2956-2958)Gaa>Taa		Rho GTPase activating protein 32							133.0	139.0	137.0					11																	128844094		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844094C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2956G>T	11.37:g.128844094C>A	ENSP00000310561:p.Glu986*					ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*	p.E986*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2955	-			986					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.2956G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	37	6.327031	0.97476	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	.	.	.	5.41	5.41	0.78517	.	0.645662	0.15987	N	0.235039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.7411	0.88407	0.0:1.0:0.0:0.0	.	.	.	.	X	986;637;912;920;637	.	ENSP00000310561:E986X	E	-	1	0	ARHGAP32	128349304	0.959000	0.32827	0.014000	0.15608	0.892000	0.51952	4.892000	0.63193	2.696000	0.92011	0.655000	0.94253	GAA		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		6	215	6	215	---	---	---	---
FKBP4	2288	broad.mit.edu	37	12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	398	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.Q398H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			TGTGCCAGCAGCGGATCCGAA	0.567																																						ENST00000001008.4																			2	Substitution - Missense(2)	p.Q398H(2)	prostate(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1192-1194)caG>caT		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						69.0	75.0	73.0					12																	2910444		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2910444G>T	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1194G>T	12.37:g.2910444G>T	ENSP00000001008:p.Gln398His					RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.Q398H	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		9	1381	+			398			Interaction with tubulin (By similarity).		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1194G>T	CCDS8512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.707525|2.707525	0.48412|0.48412	.|.	.|.	ENSG00000004478|ENSG00000004478	ENST00000001008|ENST00000539181	T|.	0.74002|.	-0.8|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Tetratricopeptide-like helical (1);|.	0.220091|.	0.48286|.	D|.	0.000190|.	T|T	0.48537|0.48537	0.1505|0.1505	L|L	0.39147|0.39147	1.195|1.195	0.47547|0.47547	D|D	0.999451|0.999451	B|.	0.14438|.	0.01|.	B|.	0.06405|.	0.002|.	T|T	0.43637|0.43637	-0.9379|-0.9379	10|5	0.48119|.	T|.	0.1|.	-32.8682|-32.8682	6.9249|6.9249	0.24410|0.24410	0.0902:0.0:0.7343:0.1755|0.0902:0.0:0.7343:0.1755	.|.	398|.	Q02790|.	FKBP4_HUMAN|.	H|I	398|34	ENSP00000001008:Q398H|.	ENSP00000001008:Q398H|.	Q|S	+|+	3|2	2|0	FKBP4|FKBP4	2780705|2780705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	1.267000|1.267000	0.33050|0.33050	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.567	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			37	195	37	195	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717457	13717457	+	Silent	SNP	G	G	T	rs568858172		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:13717457G>T	ENST00000609686.1	-	13	2924	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	905					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A905A(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCATGTTCTTGGCCGTGCGCA	0.592																																						ENST00000609686.1																			2	Substitution - coding silent(2)	p.A905A(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2713-2715)gcC>gcA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						159.0	146.0	150.0					12																	13717457		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717457G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2715C>A	12.37:g.13717457G>T							p.A905A	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2924	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2715C>A	CCDS8662.1																																																																																				0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			17	326	17	326	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63543828	63543828	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:63543828A>G	ENST00000299178.2	-	1	894	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	263					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G263G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GGAAGGCCACACCCGCTTGCT	0.587																																						ENST00000299178.2																			1	Substitution - coding silent(1)	p.G263G(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(787-789)ggT>ggC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						111.0	107.0	108.0					12																	63543828		2203	4300	6503	SO:0001819	synonymous_variant	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543828A>G	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.789T>C	12.37:g.63543828A>G							p.G263G	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	894	-			263						Silent	SNP	ENST00000299178.2	37	c.789T>C	CCDS8965.1																																																																																				0.587	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			11	273	11	273	---	---	---	---
MIR380	494329	broad.mit.edu	37	14	101492436	101492436	+	RNA	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:101492436A>T	ENST00000362112.2	-	0	0				MIR329-1_ENST00000385028.1_RNA|MIR411_ENST00000362239.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR299_ENST00000385016.2_RNA|MIR329-2_ENST00000385029.1_RNA|MIR758_ENST00000390227.1_RNA	NR_029872.1				microRNA 380																		AACCCTCAGTATCTAATGCCC	0.507																																						ENST00000390227.1																			0																				152.0	140.0	144.0					14																	101492436		1568	3582	5150			768212							g.chr14:101492436A>T			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101492436A>T								NR_030406.1						0	80	+									RNA	SNP	ENST00000362112.2	37																																																																																						0.507	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		8	226	8	226	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:105417068C>G	ENST00000333244.5	-	7	4839	c.4720G>C	c.(4720-4722)Ggg>Cgg	p.G1574R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1574						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G1574R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.607																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.G1574R(1)	prostate(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4720-4722)Ggg>Cgg		AHNAK nucleoprotein 2							109.0	116.0	114.0					14																	105417068		1848	4053	5901	SO:0001583	missense	113146					nucleus		g.chr14:105417068C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4720G>C	14.37:g.105417068C>G	ENSP00000353114:p.Gly1574Arg					AHNAK2_ENST00000557457.1_Intron	p.G1574R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4839	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1574					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4720G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.616366	0.28801	.	.	ENSG00000185567	ENST00000333244	T	0.01584	4.75	4.12	2.23	0.28157	.	.	.	.	.	T	0.07818	0.0196	M	0.88450	2.955	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.30387	-0.9980	9	0.12103	T	0.63	-24.0033	4.3009	0.10923	0.3123:0.4995:0.0:0.1882	.	1574	Q8IVF2	AHNK2_HUMAN	R	1574	ENSP00000353114:G1574R	ENSP00000353114:G1574R	G	-	1	0	AHNAK2	104488113	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.213000	0.17521	0.212000	0.20703	-0.350000	0.07774	GGG		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	657	10	657	---	---	---	---
ABHD2	11057	broad.mit.edu	37	15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89736470A>G	ENST00000352732.5	+	10	1521	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C|ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			1	Substitution - Missense(1)	p.Y334C(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1000-1002)tAt>tGt		abhydrolase domain containing 2							207.0	170.0	182.0					15																	89736470		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736470A>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1001A>G	15.37:g.89736470A>G	ENSP00000268129:p.Tyr334Cys					ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			10	1521	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		334					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1001A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370719	0.61624	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.41400	1.0;1.0	5.33	4.19	0.49359	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.285381	0.38897	N	0.001537	T	0.25938	0.0632	N	0.08118	0	0.37314	D	0.909245	P	0.47841	0.901	B	0.42386	0.386	T	0.25745	-1.0123	10	0.51188	T	0.08	1.414	12.6689	0.56857	0.8618:0.1382:0.0:0.0	.	334	P08910	ABHD2_HUMAN	C	334	ENSP00000268129:Y334C;ENSP00000347217:Y334C	ENSP00000268129:Y334C	Y	+	2	0	ABHD2	87537474	0.954000	0.32549	0.996000	0.52242	0.991000	0.79684	3.688000	0.54699	0.946000	0.37632	0.460000	0.39030	TAT		0.408	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			33	123	33	123	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:12136844G>T	ENST00000566228.1	+	5	407	c.338G>T	c.(337-339)gGc>gTc	p.G113V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	113	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.G113V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCAGACGTGGGCCGGGGTCGC	0.652																																						ENST00000566228.1																			1	Substitution - Missense(1)	p.G113V(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(337-339)gGc>gTc		sorting nexin 29							41.0	34.0	36.0					16																	12136844		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12136844G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.338G>T	16.37:g.12136844G>T	ENSP00000456480:p.Gly113Val					SNX29_ENST00000568359.1_3'UTR	p.G113V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			5	407	+			0					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.338G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928139	0.92389	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.87900	2.915	0.80722	D	1	.	.	.	.	.	.	D	0.86451	0.1773	7	0.87932	D	0	-16.1599	16.2512	0.82489	0.0:0.0:1.0:0.0	.	.	.	.	V	113	.	ENSP00000268271:G113V	G	+	2	0	RUNDC2A	12044345	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.354000	0.97083	2.404000	0.81709	0.462000	0.41574	GGC		0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			4	58	4	58	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	216					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S216T(1)|p.L303V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGACATGCCAGTGACAGCCAC	0.428																																						ENST00000289416.5																			2	Substitution - Missense(2)	p.S216T(1)|p.L303V(1)	prostate(2)	breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(646-648)aGt>aCt		acyl-CoA synthetase medium-chain family member 3							179.0	158.0	165.0					16																	20792044		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20792044G>C	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.647G>C	16.37:g.20792044G>C	ENSP00000289416:p.Ser216Thr					ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T	p.S216T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			5	1122	+			216					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.647G>C	CCDS10589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702405|2.702405	0.48307|0.48307	.|.	.|.	ENSG00000196678|ENSG00000005187	ENST00000300005|ENST00000289416;ENST00000440284;ENST00000450120	.|T;T;T	.|0.41065	.|1.01;1.01;1.49	5.95|5.95	2.72|2.72	0.32119|0.32119	.|AMP-dependent synthetase/ligase (1);	.|0.337248	.|0.29868	.|N	.|0.010982	T|T	0.38612|0.38612	0.1047|0.1047	.|.	.|.	.|.	0.09310|0.09310	N|N	0.99999|0.99999	B|B;B;B	0.20052|0.21071	0.041|0.051;0.001;0.036	B|B;B;B	0.21917|0.29077	0.037|0.098;0.019;0.056	T|T	0.43507|0.43507	-0.9387|-0.9387	7|9	0.30078|0.56958	T|D	0.28|0.05	-5.561|-5.561	15.8412|15.8412	0.78845|0.78845	0.0:0.5663:0.4337:0.0|0.0:0.5663:0.4337:0.0	.|.	303|208;216;216	A8K979-4|E7ETR5;Q53FZ2;Q53FZ2-2	.|.;ACSM3_HUMAN;.	V|T	303|216;216;208	.|ENSP00000289416:S216T;ENSP00000394565:S216T;ENSP00000395297:S208T	ENSP00000300005:L303V|ENSP00000289416:S216T	L|S	-|+	1|2	2|0	ERI2|ACSM3	20699545|20699545	0.050000|0.050000	0.20438|0.20438	0.914000|0.914000	0.36105|0.36105	0.636000|0.636000	0.38137|0.38137	1.408000|1.408000	0.34668|0.34668	0.823000|0.823000	0.34589|0.34589	0.655000|0.655000	0.94253|0.94253	CTG|AGT		0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		5	219	5	219	---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R|RP11-325K4.2_ENST00000570210.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.H302R(1)|p.H303R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGAAGGCATCACGTTGGG	0.478			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		2	Substitution - Missense(2)	p.H302R(1)|p.H303R(1)	prostate(2)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(907-909)cAt>cGt		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							200.0	173.0	182.0					16																	56976046		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56976046A>G	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.908A>G	16.37:g.56976046A>G	ENSP00000409555:p.His303Arg					HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R	p.H303R	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			7	1105	+			303					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.908A>G	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411802	0.62511	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T;T	0.52754	2.09;2.19;0.65	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.76838	2.35	0.80722	D	1	D;P;P;P	0.89917	1.0;0.722;0.867;0.679	D;B;P;B	0.91635	0.999;0.282;0.522;0.202	T	0.73742	-0.3887	10	0.72032	D	0.01	-11.1131	15.1808	0.72956	1.0:0.0:0.0:0.0	.	144;278;302;303	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	R	302;278;303;144	ENSP00000369118:H278R;ENSP00000300302:H303R;ENSP00000340931:H144R	ENSP00000300302:H303R	H	+	2	0	HERPUD1	55533547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.010000	0.70753	2.246000	0.74042	0.533000	0.62120	CAT		0.478	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			10	263	10	263	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83704517	83704517	+	Silent	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000268613.10_Silent_p.G455G|CDH13_ENST00000428848.3_Silent_p.G369G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.G408G(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAACCCCGGGCAGAGCTTTG	0.502																																						ENST00000566620.1																			1	Substitution - coding silent(1)	p.G408G(1)	prostate(1)	large_intestine(1)	1						c.(1222-1224)ggG>ggC		cadherin 13							140.0	137.0	138.0					16																	83704517		1940	4148	6088	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704517G>C	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1224G>C	16.37:g.83704517G>C						CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	p.G408G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1514	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	408			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1224G>C	CCDS58486.1																																																																																				0.502	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	221	10	221	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000354903.5_Missense_Mutation_p.G314W|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.G310W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	330					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.G330W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGGGCCCCATCTGAGACC	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		1	Substitution - Missense(1)	p.G330W(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(988-990)Ggg>Tgg	Other conserved DNA damage response genes	period circadian clock 1							75.0	74.0	74.0					17																	8052022		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8052022C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.988G>T	17.37:g.8052022C>A	ENSP00000314420:p.Gly330Trp					PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	p.G330W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			8	1225	-			330					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.988G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051198	0.75960	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.38722	2.51;1.12	5.28	5.28	0.74379	.	0.467747	0.24975	N	0.034104	T	0.52661	0.1748	L	0.43923	1.385	0.42406	D	0.992586	D;D	0.76494	0.97;0.999	P;D	0.68621	0.497;0.959	T	0.53844	-0.8381	10	0.62326	D	0.03	-14.229	9.9427	0.41589	0.0:0.9074:0.0:0.0926	.	314;330	B4DI49;O15534	.;PER1_HUMAN	W	330;314	ENSP00000314420:G330W;ENSP00000346979:G314W	ENSP00000314420:G330W	G	-	1	0	PER1	7992747	0.001000	0.12720	0.999000	0.59377	0.928000	0.56348	0.818000	0.27295	2.483000	0.83821	0.563000	0.77884	GGG		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	203	5	203	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8792523	8792523	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.G276G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGTGGAGCTTCCCTGGTTTTG	0.592																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			2	Substitution - coding silent(2)	p.G276G(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(826-828)ggG>ggA		phosphoinositide-3-kinase, regulatory subunit 5							75.0	68.0	70.0					17																	8792523		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792523C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.828G>A	17.37:g.8792523C>T						PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			9	952	-			276	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.828G>A	CCDS11147.1																																																																																				0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		17	48	17	48	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:10405105G>T	ENST00000226207.5	-	25	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1079					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1079K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCAAGTTGTTGTTTGTCA	0.343																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.Q1079K(1)	prostate(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3235-3237)Caa>Aaa		myosin, heavy chain 1, skeletal muscle, adult							85.0	70.0	75.0					17																	10405105		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10405105G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3235C>A	17.37:g.10405105G>T	ENSP00000226207:p.Gln1079Lys					RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.Q1079K	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			25	3329	-			1079					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3235C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669872	0.88348	.	.	ENSG00000109061	ENST00000226207	T	0.76578	-1.03	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.41294	U	0.000904	D	0.83571	0.5283	M	0.87682	2.9	0.80722	D	1	P	0.37158	0.585	B	0.39119	0.291	D	0.85296	0.1070	10	0.62326	D	0.03	.	20.0377	0.97569	0.0:0.0:1.0:0.0	.	1079	P12882	MYH1_HUMAN	K	1079	ENSP00000226207:Q1079K	ENSP00000226207:Q1079K	Q	-	1	0	MYH1	10345830	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.704000	0.98716	2.822000	0.97130	0.650000	0.86243	CAA		0.343	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	78	11	78	---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:33588030G>C	ENST00000299977.4	+	3	1201	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	351					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L351F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTTGAGTTTGTCATCTGCCA	0.468																																						ENST00000299977.4																			1	Substitution - Missense(1)	p.L351F(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1051-1053)ttG>ttC		schlafen family member 5							193.0	177.0	183.0					17																	33588030		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33588030G>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1053G>C	17.37:g.33588030G>C	ENSP00000299977:p.Leu351Phe					SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	3	1201	+		Ovarian(249;0.17)	351					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1053G>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354641	0.41700	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.60040	0.22;0.22	3.25	3.25	0.37280	.	0.807893	0.10049	N	0.722426	T	0.59838	0.2223	L	0.58810	1.83	0.40603	D	0.981605	D;P	0.54047	0.964;0.906	P;B	0.47941	0.562;0.443	T	0.62918	-0.6752	10	0.59425	D	0.04	.	10.1654	0.42877	0.0:0.0:1.0:0.0	.	351;351	B4E128;Q08AF3	.;SLFN5_HUMAN	F	351	ENSP00000299977:L351F;ENSP00000440537:L351F	ENSP00000299977:L351F	L	+	3	2	SLFN5	30612143	0.011000	0.17503	0.379000	0.26080	0.198000	0.23893	0.751000	0.26348	1.832000	0.53329	0.591000	0.81541	TTG		0.468	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		13	281	13	281	---	---	---	---
RSAD1	55316	broad.mit.edu	37	17	48557076	48557076	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:48557076T>C	ENST00000258955.2	+	2	307	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	74					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.C74C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGAAGTGTCTGGTGACCG	0.597											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258955.2																			1	Substitution - coding silent(1)	p.C74C(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(220-222)tgT>tgC		radical S-adenosyl methionine domain containing 1							56.0	61.0	60.0					17																	48557076		2203	4300	6503	SO:0001819	synonymous_variant	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48557076T>C	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.222T>C	17.37:g.48557076T>C			OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.C74C	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		2	307	+	Breast(11;1.93e-18)		74					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	ENST00000258955.2	37	c.222T>C	CCDS11569.1																																																																																				0.597	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		11	86	11	86	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A	rs369184380		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:12878871G>A	ENST00000397668.3	-	12	1244	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.R391C	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	391	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R391C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCAGGTTGCGGCATTCAAAT	0.572																																						ENST00000264827.5																			1	Substitution - Missense(1)	p.R391C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1171-1173)Cgc>Tgc		hook microtubule-tethering protein 2		G	CYS/ARG,CYS/ARG	0,3976		0,0,1988	153.0	157.0	156.0		1171,1171	4.3	1.0	19		156	1,8279		0,1,4139	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	180,180	0,1,6127	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	391/718,391/720	12878871	1,12255	1988	4140	6128	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878871G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1171C>T	19.37:g.12878871G>A	ENSP00000380785:p.Arg391Cys					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C	p.R391C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			12	1341	-			391			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1171C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306389	0.60305	0.0	1.21E-4	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19394	2.15;2.15	5.36	4.28	0.50868	.	0.450837	0.23777	N	0.044679	T	0.37320	0.0999	L	0.59436	1.845	0.34414	D	0.696758	D;D	0.76494	0.998;0.999	P;P	0.60173	0.795;0.87	T	0.52139	-0.8615	10	0.87932	D	0	-9.3369	12.9698	0.58505	0.0:0.0:0.7247:0.2753	.	391;391	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	C	391	ENSP00000380785:R391C;ENSP00000264827:R391C	ENSP00000264827:R391C	R	-	1	0	HOOK2	12739871	0.160000	0.22878	0.998000	0.56505	0.845000	0.48019	1.209000	0.32357	2.515000	0.84797	0.456000	0.33151	CGC		0.572	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		5	281	5	281	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:38572844G>T	ENST00000222345.6	+	3	1148	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	213					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.M213I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCAGGGCATGCCCGAGCAGA	0.721																																						ENST00000222345.6																			1	Substitution - Missense(1)	p.M213I(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(637-639)atG>atT		signal-induced proliferation-associated 1 like 3							38.0	35.0	36.0					19																	38572844		2160	4228	6388	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572844G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.639G>T	19.37:g.38572844G>T	ENSP00000222345:p.Met213Ile						p.M213I	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1148	+			213					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.639G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050821	0.08243	.	.	ENSG00000105738	ENST00000222345	T	0.73897	-0.79	5.48	-0.625	0.11548	.	0.388001	0.26507	N	0.023988	T	0.38931	0.1059	N	0.03608	-0.345	0.24392	N	0.994741	B	0.02656	0.0	B	0.01281	0.0	T	0.12293	-1.0553	10	0.16420	T	0.52	-10.2456	0.9076	0.01288	0.1846:0.2796:0.2984:0.2374	.	213	O60292	SI1L3_HUMAN	I	213	ENSP00000222345:M213I	ENSP00000222345:M213I	M	+	3	0	SIPA1L3	43264684	0.000000	0.05858	0.859000	0.33776	0.183000	0.23260	-0.703000	0.05063	0.279000	0.22186	-1.138000	0.01928	ATG		0.721	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	148	4	148	---	---	---	---
BPIFB1	92747	broad.mit.edu	37	20	31890815	31890815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:31890815C>A	ENST00000253354.1	+	11	1236	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	359					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.Q359K(1)									CAAGGTGGCCCAACTGATCGT	0.532																																						ENST00000253354.1																			1	Substitution - Missense(1)	p.Q359K(1)	prostate(1)								c.(1075-1077)Caa>Aaa		BPI fold containing family B, member 1							129.0	108.0	115.0					20																	31890815		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31890815C>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1075C>A	20.37:g.31890815C>A	ENSP00000253354:p.Gln359Lys					BPIFB1_ENST00000464032.1_3'UTR	p.Q359K	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			11	1236	+			359					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1075C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798128	0.50208	.	.	ENSG00000125999	ENST00000253354	T	0.06849	3.25	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	T	0.26955	0.0660	M	0.72894	2.215	0.35214	D	0.775382	D	0.76494	0.999	D	0.74674	0.984	T	0.10382	-1.0632	10	0.49607	T	0.09	-15.0282	14.2728	0.66162	0.0:1.0:0.0:0.0	.	359	Q8TDL5	BPIB1_HUMAN	K	359	ENSP00000253354:Q359K	ENSP00000253354:Q359K	Q	+	1	0	BPIFB1	31354476	1.000000	0.71417	0.948000	0.38648	0.031000	0.12232	3.320000	0.51991	2.747000	0.94245	0.462000	0.41574	CAA		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		23	76	23	76	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	74					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.N74D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGTTGCTGTTGCACTCACTC	0.473																																						ENST00000216267.8																			1	Substitution - Missense(1)	p.N74D(1)	prostate(1)	endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(220-222)Aac>Gac		bromodomain containing 1							119.0	117.0	118.0					22																	50217746		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217746T>C	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.220A>G	22.37:g.50217746T>C	ENSP00000216267:p.Asn74Asp					BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D	p.N74D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	706	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	74					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.220A>G	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741491	0.30865	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.12	5.12	0.69794	Enhancer of polycomb-like, N-terminal (1);	0.141050	0.64402	D	0.000007	T	0.51312	0.1667	L	0.56769	1.78	0.40403	D	0.979668	P;D;P	0.55172	0.571;0.97;0.515	B;P;B	0.52386	0.174;0.697;0.108	T	0.52917	-0.8511	9	.	.	.	.	14.9058	0.70718	0.0:0.0:0.0:1.0	.	74;74;74	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	D	74	ENSP00000216267:N74D;ENSP00000384076:N74D;ENSP00000385858:N74D;ENSP00000410042:N74D	.	N	-	1	0	BRD1	48603750	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.759000	0.68785	1.930000	0.55929	0.368000	0.22195	AAC		0.473	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		6	200	6	200	---	---	---	---
LMF2	91289	broad.mit.edu	37	22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50941923C>T	ENST00000474879.2	-	14	2036	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H|LMF2_ENST00000216080.5_Missense_Mutation_p.R649H	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	674						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R649H(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGGCCTGCGCTTCTCCCC	0.662																																						ENST00000216080.5																			1	Substitution - Missense(1)	p.R649H(1)	prostate(1)	breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1945-1947)cGc>cAc		lipase maturation factor 2							14.0	17.0	16.0					22																	50941923		2197	4287	6484	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941923C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2021G>A	22.37:g.50941923C>T	ENSP00000424381:p.Arg674His					LMF2_ENST00000474879.2_Missense_Mutation_p.R674H|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H	p.R649H			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2114	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	674					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1946G>A	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	1.695	-0.502920	0.04261	.	.	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.31769	1.48;1.91;1.9	5.12	0.172	0.15031	.	0.965442	0.08583	N	0.924288	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27054	-1.0085	10	0.35671	T	0.21	3.0684	3.4612	0.07533	0.1644:0.2921:0.0:0.5435	.	674;649	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	H	561;674;649	ENSP00000370173:R561H;ENSP00000424381:R674H;ENSP00000216080:R649H	ENSP00000216080:R649H	R	-	2	0	LMF2	49288789	0.007000	0.16637	0.102000	0.21198	0.016000	0.09150	-0.022000	0.12480	-0.188000	0.10499	-0.459000	0.05422	CGC		0.662	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		6	34	6	34	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24516991	24516991	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:24516991C>T	ENST00000379162.4	+	3	529	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_ENST00000441463.2_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	98					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.S98S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAAGAGCCCTGAGGATC	0.323																																						ENST00000441463.2																			2	Substitution - coding silent(2)	p.S98S(2)	prostate(2)	NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(292-294)agC>agT		pyruvate dehydrogenase kinase, isozyme 3							43.0	46.0	45.0					X																	24516991		2203	4299	6502	SO:0001819	synonymous_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24516991C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.294C>T	X.37:g.24516991C>T						PDK3_ENST00000379162.4_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	p.S98S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			3	294	+			98					B4DXG6	Silent	SNP	ENST00000379162.4	37	c.294C>T	CCDS14212.1																																																																																				0.323	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		31	14	31	14	---	---	---	---
ZCCHC5	203430	broad.mit.edu	37	X	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	rs144237768		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627																																						ENST00000321110.1																			1	Substitution - Missense(1)	p.A116V(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(346-348)gCg>gTg		zinc finger, CCHC domain containing 5		G	VAL/ALA	1,3834		0,1,1631,571	23.0	26.0	25.0		347	1.8	0.0	X	dbSNP_134	25	0,6724		0,0,2428,1868	no	missense	ZCCHC5	NM_152694.2	64	0,1,4059,2439	AA,AG,GG,G		0.0,0.0261,0.0095	benign	116/476	77913571	1,10558	2203	4296	6499	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913571G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.347C>T	X.37:g.77913571G>A	ENSP00000316794:p.Ala116Val						p.A116V	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	642	-			116			Pro-rich.		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.347C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980926	0.18812	2.61E-4	0.0	ENSG00000179300	ENST00000321110	T	0.18502	2.21	3.01	1.84	0.25277	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.31223	-0.9951	9	0.51188	T	0.08	.	7.1902	0.25821	0.0:0.0:0.2253:0.7747	.	116	Q8N8U3	ZCHC5_HUMAN	V	116	ENSP00000316794:A116V	ENSP00000316794:A116V	A	-	2	0	ZCCHC5	77800227	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.294000	0.08309	0.411000	0.25702	-0.623000	0.04022	GCG		0.627	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		5	49	5	49	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003970	155003970	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:155003970T>A	ENST00000302805.2	+	2	868	c.437T>A	c.(436-438)aTc>aAc	p.I146N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	146					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.I146N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTCTTCATCTGTGAGGAA	0.612																																						ENST00000302805.2																			1	Substitution - Missense(1)	p.I146N(1)	prostate(1)								c.(436-438)aTc>aAc		sprouty homolog 3 (Drosophila)							111.0	114.0	113.0					X																	155003970		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003970T>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.437T>A	X.37:g.155003970T>A	ENSP00000302978:p.Ile146Asn						p.I146N	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	868	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		146					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.437T>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	T	11.26	1.587690	0.28268	.	.	ENSG00000168939	ENST00000302805	T	0.57752	0.38	2.71	2.71	0.32032	.	0.063936	0.64402	D	0.000010	T	0.30759	0.0775	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.40702	0.338	T	0.17379	-1.0371	9	0.11794	T	0.64	-25.0983	8.2671	0.31821	0.0:0.0:0.0:1.0	.	146	O43610	SPY3_HUMAN	N	146	ENSP00000302978:I146N	ENSP00000302978:I146N	I	+	2	0	SPRY3	154657164	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.960000	0.49161	1.108000	0.41662	0.231000	0.17811	ATC		0.612	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		7	221	7	221	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:71582900delT	ENST00000409544.1	+	3	1999	c.1369delT	c.(1369-1371)ttafs	p.L457fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	457					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTCGACAGTTACGTCAACA	0.289																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1369-1371)ttafs		zinc finger protein 638							50.0	45.0	47.0					2																	71582900		2199	4286	6485	SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71582900delT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1369delT	2.37:g.71582900delT	ENSP00000386433:p.Leu457fs					ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			3	1999	+			457					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.1369delT	CCDS1917.1																																																																																				0.289	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		7	74	7	74	---	---	---	---
ZCCHC10	54819	broad.mit.edu	37	5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-	rs569444262		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:132334285_132334287delTTC	ENST00000509437.1	-	5	574_576	c.567_569delGAA	c.(565-570)aagaaa>aaa	p.189_190KK>K	ZCCHC10_ENST00000324170.3_In_Frame_Del_p.167_168KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000509008.1_3'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	189	Poly-Lys.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTTCTTTTTCTTCTTCTTTG	0.419																																						ENST00000324170.3																			0				skin(1)	1						c.(499-504)aagaaa>aaa		zinc finger, CCHC domain containing 10																																				SO:0001651	inframe_deletion	54819						nucleic acid binding|zinc ion binding	g.chr5:132334285_132334287delTTC	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.567_569delGAA	5.37:g.132334291_132334293delTTC	ENSP00000423276:p.Lys192del					ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.189_190KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K	p.167_168KK>K	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	567_569	-			189			Ser-rich.		Q9NXR4	In_Frame_Del	DEL	ENST00000509437.1	37	c.501_503delGAA																																																																																					0.419	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		7	109	7	109	---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:43668136_43668137insT	ENST00000398752.6	-	6	858_859	c.737_738insA	c.(736-738)tatfs	p.Y246fs	ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000593152.2_Frame_Shift_Ins_p.Y196fs	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	246					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAATAGCAACATAAATACAGTA	0.347																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(586-588)tatfs		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle																																				SO:0001589	frameshift_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668136_43668137insT	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.738dupA	18.37:g.43668137_43668137dupT	ENSP00000381736:p.Tyr246fs					ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.Y246fs	p.Y196fs	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			6	1126_1127	-			246					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Frame_Shift_Ins	INS	ENST00000398752.6	37	c.587_588insA	CCDS11927.1																																																																																				0.347	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		43	229	43	229	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:70463721_70463722delAT	ENST00000353904.2	-	21	3576_3577	c.3389_3390delAT	c.(3388-3390)tatfs	p.Y1130fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.Y1118fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1130					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTCAGGTTCATATCGTTCACC	0.495																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3352-3354)tatfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463721_70463722delAT	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3389_3390delAT	X.37:g.70463723_70463724delAT	ENSP00000343909:p.Tyr1130fs					ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs	p.Y1118fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	4050_4051	-	Renal(35;0.156)		1130					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.3353_3354delAT	CCDS14409.1																																																																																				0.495	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		53	26	53	26	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			7	143	7	143	---	---	---	---
