#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNMT3B	1789	broad.mit.edu	37	20	31379479	31379479	+	Missense_Mutation	SNP	G	G	A	rs145632647	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr20:31379479G>A	ENST00000328111.2	+	8	1207	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	DNMT3B_ENST00000443239.3_Missense_Mutation_p.V254I|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V254I|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V296I|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V308I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V220I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	296	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATAAGCTCGTCTCCTATCG	0.498													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21625	0.0		0.0	False		,,,				2504	0.0					ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(886-888)Gtc>Atc		DNA (cytosine-5-)-methyltransferase 3 beta		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	152.0	115.0	128.0		760,658,886,886,886,922	4.9	1.0	20	dbSNP_134	128	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	29,29,29,29,29,29	0,10,6493	AA,AG,GG		0.0465,0.1362,0.0769	benign,benign,benign,benign,benign,benign	254/729,220/695,296/854,296/834,296/771,308/846	31379479	10,12996	2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31379479G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.886G>A	20.37:g.31379479G>A	ENSP00000328547:p.Val296Ile					DNMT3B_ENST00000201963.3_Missense_Mutation_p.V308I|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V220I|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V296I|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V254I|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V254I	p.V296I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			8	1207	+			296			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.886G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442671	0.43326	0.001362	4.65E-4	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.85	4.87	0.63330	.	0.117745	0.56097	D	0.000021	T	0.58438	0.2122	L	0.51422	1.61	0.38983	D	0.958994	B;B;B;B;B;D	0.53885	0.052;0.085;0.252;0.086;0.252;0.963	B;B;B;B;B;B	0.39094	0.01;0.028;0.037;0.039;0.037;0.29	T	0.63541	-0.6614	10	0.35671	T	0.21	-31.6817	14.6059	0.68478	0.0:0.2718:0.7282:0.0	.	220;254;308;296;296;296	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	I	296;382;296;296;254;220;296;254;308	ENSP00000328547:V296I;ENSP00000313397:V296I;ENSP00000337764:V296I;ENSP00000403169:V254I;ENSP00000412305:V220I;ENSP00000345105:V296I;ENSP00000364774:V254I;ENSP00000201963:V308I	ENSP00000201963:V308I	V	+	1	0	DNMT3B	30843140	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.958000	0.49145	2.773000	0.95371	0.655000	0.94253	GTC		0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	38	0	0	0	1	0	6	38				
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G	rs546151905		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCCTGGGCCATGGAGCACTC	0.473																																						ENST00000414583.2																			0																																																			0							g.chr22:24659512A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659512A>G								NR_003714.1						0	3037	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.473	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	9	0	0	0	1	0	3	9				
PYCR1	5831	broad.mit.edu	37	17	79892863	79892863	+	Missense_Mutation	SNP	G	G	A	rs139869668		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr17:79892863G>A	ENST00000329875.8	-	4	543	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PYCR1_ENST00000402252.2_Missense_Mutation_p.T187M|PYCR1_ENST00000337943.5_Missense_Mutation_p.T160M|PYCR1_ENST00000577756.1_Missense_Mutation_p.T160M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T160M|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	160					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	TTCCACCTCCGTGCAGAAGCC	0.692																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(478-480)aCg>aTg		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	51.0	43.0	45.0		479,479	4.1	1.0	17	dbSNP_134	45	0,8598		0,0,4299	no	missense,missense	PYCR1	NM_006907.2,NM_153824.1	81,81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	160/320,160/317	79892863	1,13003	2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892863G>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.479C>T	17.37:g.79892863G>A	ENSP00000328858:p.Thr160Met					PYCR1_ENST00000329875.8_Missense_Mutation_p.T160M|PYCR1_ENST00000402252.2_Missense_Mutation_p.T187M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T160M|PYCR1_ENST00000577756.1_Missense_Mutation_p.T160M	p.T160M	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	921	-	all_neural(118;0.0878)|Ovarian(332;0.12)		160					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.479C>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434222	0.62955	2.27E-4	0.0	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.049975	0.85682	D	0.000000	T	0.60222	0.2252	N	0.11789	0.175	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	0.997;0.996;0.996;1.0;0.996;0.985;0.996	P;P;P;P;P;P;P	0.60286	0.749;0.579;0.579;0.872;0.579;0.46;0.675	T	0.65861	-0.6065	10	0.44086	T	0.13	.	16.0278	0.80555	0.0:0.0:1.0:0.0	.	132;187;160;160;160;160;160	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	M	160;160;160;187;132	ENSP00000336579:T160M;ENSP00000328858:T160M;ENSP00000385483:T160M;ENSP00000384949:T187M	ENSP00000328858:T160M	T	-	2	0	PYCR1	77486154	1.000000	0.71417	0.952000	0.39060	0.919000	0.55068	7.782000	0.85680	1.866000	0.54105	0.555000	0.69702	ACG		0.692	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			10	26	0	0	0	1	0	10	26				
ASH1L	55870	broad.mit.edu	37	1	155449429	155449429	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:155449429G>A	ENST00000368346.3	-	3	3871	c.3232C>T	c.(3232-3234)Caa>Taa	p.Q1078*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1078*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1078					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTGCCTGTTGAGCTGTTTGC	0.433																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3232-3234)Caa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							60.0	59.0	59.0					1																	155449429		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449429G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3232C>T	1.37:g.155449429G>A	ENSP00000357330:p.Gln1078*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1078*	p.Q1078*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3871	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1078					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.3232C>T		.	.	.	.	.	.	.	.	.	.	G	45	11.380312	0.99554	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.08	5.08	0.68730	.	0.260096	0.35378	N	0.003247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.7164	0.51655	0.0814:0.0:0.9186:0.0	.	.	.	.	X	1078	.	ENSP00000357330:Q1078X	Q	-	1	0	ASH1L	153716053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.924000	0.70054	2.645000	0.89757	0.591000	0.81541	CAA		0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	63	0	0	0	1	0	8	63				
FRMPD4	9758	broad.mit.edu	37	X	12736537	12736537	+	Silent	SNP	C	C	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:12736537C>A	ENST00000380682.1	+	16	4098	c.3592C>A	c.(3592-3594)Cgg>Agg	p.R1198R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTTGGCCAAGCGGATGTCATC	0.582																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3592-3594)Cgg>Agg		FERM and PDZ domain containing 4							128.0	118.0	121.0					X																	12736537		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736537C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3592C>A	X.37:g.12736537C>A							p.R1198R	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	4098	+			1198					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3592C>A	CCDS35201.1																																																																																				0.582	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		6	97	1	0	0.00307968	1	0.00307968	6	97				
UAP1L1	91373	broad.mit.edu	37	9	139975261	139975261	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr9:139975261G>A	ENST00000409858.3	+	7	1331	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	UAP1L1_ENST00000360271.3_Silent_p.R310R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	433							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGCACTACCGGTGGGCTCTGC	0.687																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1297-1299)cgG>cgA		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							27.0	32.0	30.0					9																	139975261		2203	4295	6498	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139975261G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1299G>A	9.37:g.139975261G>A						UAP1L1_ENST00000360271.3_Silent_p.R310R	p.R433R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1331	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	433					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.1299G>A	CCDS7028.2																																																																																				0.687	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		10	33	0	0	0	1	0	10	33				
FBXO38	81545	broad.mit.edu	37	5	147781593	147781593	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr5:147781593T>C	ENST00000340253.5	+	4	479	c.311T>C	c.(310-312)gTt>gCt	p.V104A	FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	104	Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGATGTTGAACAGCTA	0.438																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(310-312)gTt>gCt		F-box protein 38							124.0	122.0	123.0					5																	147781593		2203	4299	6502	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781593T>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.311T>C	5.37:g.147781593T>C	ENSP00000342023:p.Val104Ala					FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A	p.V104A			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	479	+			104			Interaction with KLF7 (By similarity).		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.311T>C		.	.	.	.	.	.	.	.	.	.	T	18.96	3.732914	0.69189	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.37235	1.21;1.22;1.21;1.22	5.77	5.77	0.91146	F-box domain, Skp2-like (1);	0.125034	0.53938	D	0.000043	T	0.24661	0.0598	N	0.08118	0	0.40420	D	0.979839	B;B;B	0.33777	0.425;0.152;0.065	B;B;B	0.36335	0.222;0.085;0.059	T	0.22800	-1.0206	10	0.72032	D	0.01	-16.5857	15.2058	0.73177	0.0:0.0:0.0:1.0	.	104;104;104	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	A	104	ENSP00000342023:V104A;ENSP00000296701:V104A;ENSP00000377895:V104A;ENSP00000426410:V104A	ENSP00000296701:V104A	V	+	2	0	FBXO38	147761786	1.000000	0.71417	0.842000	0.33263	0.992000	0.81027	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	GTT		0.438	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		20	79	0	0	0	1	0	20	79				
KIAA0391	9692	broad.mit.edu	37	14	35592719	35592719	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:35592719G>A	ENST00000557565.1	+	2	649	c.268G>A	c.(268-270)Gct>Act	p.A90T	PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000250377.7_5'UTR	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	90					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGCTGGAGCAGCTAAGGAGAG	0.418																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(268-270)Gct>Act		KIAA0391							48.0	47.0	47.0					14																	35592719		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35592719G>A	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.268G>A	14.37:g.35592719G>A	ENSP00000454657:p.Ala90Thr					KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron	p.A90T			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	649	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		90					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.268G>A	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802188	0.70682	.	.	ENSG00000100890	ENST00000321130;ENST00000534898;ENST00000556121	T;T	0.50001	0.77;0.76	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000046	T	0.61489	0.2351	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.60141	-0.7321	10	0.07644	T	0.81	-11.8187	11.9091	0.52729	0.0:0.1299:0.7358:0.1342	.	90;90	O15091-2;O15091	.;MRRP3_HUMAN	T	90	ENSP00000324697:A90T;ENSP00000440915:A90T	ENSP00000324697:A90T	A	+	1	0	KIAA0391	34662470	0.999000	0.42202	0.953000	0.39169	0.885000	0.51271	3.170000	0.50816	2.438000	0.82558	0.563000	0.77884	GCT		0.418	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		3	41	0	0	0	1	0	3	41				
BPIFB4	149954	broad.mit.edu	37	20	31673924	31673924	+	Nonsense_Mutation	SNP	C	C	T	rs377208700		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr20:31673924C>T	ENST00000375483.3	+	5	880	c.880C>T	c.(880-882)Cga>Tga	p.R294*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	294						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGTCATTGAGCGATGTGACAC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21572	0.0		0.001	False		,,,				2504	0.0					ENST00000375483.3																			0											c.(880-882)Cga>Tga		BPI fold containing family B, member 4							97.0	81.0	86.0					20																	31673924		2203	4300	6503	SO:0001587	stop_gained	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673924C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.880C>T	20.37:g.31673924C>T	ENSP00000364632:p.Arg294*						p.R294*	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			5	880	+			294					Q5TDX6	Nonsense_Mutation	SNP	ENST00000375483.3	37	c.880C>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821236	0.90873	.	.	ENSG00000186191	ENST00000375483	.	.	.	3.94	-1.41	0.08941	.	0.542388	0.16734	N	0.201733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6924	10.4766	0.44667	0.7144:0.2856:0.0:0.0	.	.	.	.	X	294	.	ENSP00000364632:R294X	R	+	1	2	BPIFB4	31137585	0.716000	0.27956	0.588000	0.28705	0.992000	0.81027	0.276000	0.18716	-0.030000	0.13804	0.491000	0.48974	CGA		0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		23	57	0	0	0	1	0	23	57				
ADCY4	196883	broad.mit.edu	37	14	24791404	24791404	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:24791404G>A	ENST00000310677.4	-	21	2567	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	ADCY4_ENST00000418030.2_Silent_p.F818F|ADCY4_ENST00000554068.2_Silent_p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	818					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTTCCACAGGAAGTCCAGGC	0.617																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2452-2454)ttC>ttT		adenylate cyclase 4							92.0	85.0	88.0					14																	24791404		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791404G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2454C>T	14.37:g.24791404G>A						ADCY4_ENST00000418030.2_Silent_p.F818F|ADCY4_ENST00000554068.2_Silent_p.F818F	p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2567	-			818					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2454C>T	CCDS9627.1																																																																																				0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	107	0	0	0	1	0	6	107				
MAP3K4	4216	broad.mit.edu	37	6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4192-4194)aAa>aGa		mitogen-activated protein kinase kinase kinase 4							180.0	174.0	176.0					6																	161529848		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529848A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4193A>G	6.37:g.161529848A>G	ENSP00000375986:p.Lys1398Arg					MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	p.K1398R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4341	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1398			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4193A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759849	0.89932	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.10916	0.065	0.58432	D	0.999998	B;B;P;P	0.46142	0.026;0.004;0.715;0.873	B;B;B;P	0.48654	0.016;0.012;0.243;0.585	T	0.12116	-1.0560	10	0.30854	T	0.27	-10.7567	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1394;334;1348;1398	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1348;1398;1348;1394;1344	ENSP00000355886:K1348R;ENSP00000375986:K1398R;ENSP00000355887:K1394R;ENSP00000297332:K1344R	ENSP00000297332:K1344R	K	+	2	0	MAP3K4	161449838	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			7	165	0	0	0	1	0	7	165				
FLNC	2318	broad.mit.edu	37	7	128484281	128484281	+	Silent	SNP	G	G	A	rs373694043		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr7:128484281G>A	ENST00000325888.8	+	20	3414	c.3153G>A	c.(3151-3153)ccG>ccA	p.P1051P	FLNC_ENST00000346177.6_Silent_p.P1051P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1051					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGCAGCCCGTTTGCTGTGG	0.627																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3151-3153)ccG>ccA		filamin C, gamma		C	,	0,4044		0,0,2022	27.0	30.0	29.0		3153,3153	5.1	1.0	7		29	3,8337		0,3,4167	no	coding-synonymous,coding-synonymous	FLNC	NM_001127487.1,NM_001458.4	,	0,3,6189	AA,AG,GG		0.036,0.0,0.0242	,	1051/2693,1051/2726	128484281	3,12381	2022	4170	6192	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484281G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3153G>A	7.37:g.128484281G>A						FLNC_ENST00000346177.6_Silent_p.P1051P	p.P1051P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			20	3414	+			1051					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3153G>A	CCDS43644.1																																																																																				0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			3	20	0	0	0	1	0	3	20				
STK39	27347	broad.mit.edu	37	2	169038559	169038559	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:169038559G>T	ENST00000355999.4	-	2	955	c.250C>A	c.(250-252)Ccc>Acc	p.P84T		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTTGCCTGGGTTTGCATAGG	0.448																																						ENST00000355999.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						c.(250-252)Ccc>Acc		serine threonine kinase 39							205.0	190.0	195.0					2																	169038559		1949	4146	6095	SO:0001583	missense	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169038559G>T	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.250C>A	2.37:g.169038559G>T	ENSP00000348278:p.Pro84Thr						p.P84T	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN			2	955	-			84			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.250C>A	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019759	0.93462	.	.	ENSG00000198648	ENST00000355999	T	0.64438	-0.1	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	L	0.31804	0.96	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	T	0.69247	-0.5195	10	0.62326	D	0.03	-39.8324	19.6509	0.95805	0.0:0.0:1.0:0.0	.	84	Q9UEW8	STK39_HUMAN	T	84	ENSP00000348278:P84T	ENSP00000348278:P84T	P	-	1	0	STK39	168746805	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.322000	0.96357	2.941000	0.99782	0.655000	0.94253	CCC		0.448	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		10	55	1	0	7.48243e-07	1	7.62914e-07	10	55				
HTT	3064	broad.mit.edu	37	4	3205828	3205828	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr4:3205828A>G	ENST00000355072.5	+	42	5816	c.5671A>G	c.(5671-5673)Aga>Gga	p.R1891G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1891					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)			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)		AATGTGCAATAGAGAAATAGT	0.468																																						ENST00000355072.5																			0				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.(5671-5673)Aga>Gga		huntingtin							124.0	124.0	124.0					4																	3205828		1887	4109	5996	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.chr4:3205828A>G	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.5671A>G	4.37:g.3205828A>G	ENSP00000347184:p.Arg1891Gly						p.R1891G	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	42	5816	+		all_epithelial(65;0.18)	1891					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5671A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593239	0.66219	.	.	ENSG00000197386	ENST00000355072	T	0.06068	3.35	5.45	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.75447	2.3	0.52099	D	0.999943	D	0.64830	0.994	D	0.74348	0.983	T	0.01375	-1.1371	10	0.28530	T	0.3	.	14.1891	0.65625	0.4306:0.5694:0.0:0.0	.	1891	P42858	HD_HUMAN	G	1891	ENSP00000347184:R1891G	ENSP00000347184:R1891G	R	+	1	2	HTT	3175626	0.714000	0.27936	0.875000	0.34327	0.993000	0.82548	1.095000	0.30964	0.357000	0.24183	0.482000	0.46254	AGA		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		30	47	0	0	0	1	0	30	47				
HBD	3045	broad.mit.edu	37	11	5255334	5255334	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:5255334C>T	ENST00000380299.3	-	2	416	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	HBD_ENST00000292901.3_Missense_Mutation_p.V68M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	68					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACCTAGCACCTTCTTGCCA	0.542																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(202-204)Gtg>Atg		hemoglobin, delta							164.0	140.0	148.0					11																	5255334		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255334C>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.202G>A	11.37:g.5255334C>T	ENSP00000369654:p.Val68Met					HBD_ENST00000292901.3_Missense_Mutation_p.V68M	p.V68M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	416	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	68					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.202G>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435136	0.62955	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.96992	-3.88;-4.2;-3.88	4.33	2.4	0.29515	Globin-like (1);Globin, structural domain (1);	0.058587	0.64402	D	0.000002	D	0.97914	0.9314	M	0.90705	3.14	0.53688	D	0.999972	D	0.89917	1.0	D	0.70016	0.967	D	0.97526	1.0076	10	0.87932	D	0	-7.611	9.9452	0.41604	0.0:0.8258:0.0:0.1742	.	68	P02042	HBD_HUMAN	M	68	ENSP00000292901:V68M;ENSP00000369654:V68M;ENSP00000393810:V68M	ENSP00000292901:V68M	V	-	1	0	HBD	5211910	0.955000	0.32602	0.998000	0.56505	0.853000	0.48598	2.162000	0.42367	0.545000	0.28902	0.585000	0.79938	GTG		0.542	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		4	102	0	0	0	1	0	4	102				
UNC5D	137970	broad.mit.edu	37	8	35406946	35406946	+	Silent	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:35406946C>T	ENST00000404895.2	+	2	568	c.240C>T	c.(238-240)gcC>gcT	p.A80A	UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000453357.2_Silent_p.A75A|UNC5D_ENST00000287272.2_Silent_p.A80A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	80	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGAGGCCAGCCATGCAGATAT	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(238-240)gcC>gcT		unc-5 homolog D (C. elegans)							63.0	57.0	59.0					8																	35406946		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406946C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.240C>T	8.37:g.35406946C>T						UNC5D_ENST00000453357.2_Silent_p.A75A|UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000404895.2_Silent_p.A80A	p.A80A			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	260	+			80			Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.240C>T	CCDS6093.2																																																																																				0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	43	0	0	0	1	0	11	43				
FEM1A	55527	broad.mit.edu	37	19	4793551	4793551	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr19:4793551A>G	ENST00000269856.3	+	1	1824	c.1685A>G	c.(1684-1686)cAc>cGc	p.H562R	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	562					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTCCCTGCACGTGGTCAAA	0.632																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1684-1686)cAc>cGc		fem-1 homolog a (C. elegans)							60.0	59.0	59.0					19																	4793551		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793551A>G	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1685A>G	19.37:g.4793551A>G	ENSP00000269856:p.His562Arg					AC005523.2_ENST00000601192.1_RNA	p.H562R	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1824	+		Hepatocellular(1079;0.137)	562					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1685A>G	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	4.584	0.108499	0.08780	.	.	ENSG00000141965	ENST00000269856	T	0.70045	-0.45	5.02	2.79	0.32731	Ankyrin repeat-containing domain (4);	0.445972	0.21659	U	0.071046	T	0.44414	0.1292	N	0.05351	-0.065	0.27378	N	0.955486	B	0.02656	0.0	B	0.08055	0.003	T	0.27262	-1.0079	10	0.34782	T	0.22	-4.7827	11.4452	0.50118	0.7129:0.2871:0.0:0.0	.	562	Q9BSK4	FEM1A_HUMAN	R	562	ENSP00000269856:H562R	ENSP00000269856:H562R	H	+	2	0	FEM1A	4744551	0.982000	0.34865	0.621000	0.29145	0.900000	0.52787	2.958000	0.49145	0.200000	0.20447	0.459000	0.35465	CAC		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			8	36	0	0	0	1	0	8	36				
ACVRL1	94	broad.mit.edu	37	12	52306277	52306277	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr12:52306277A>G	ENST00000388922.4	+	2	302	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R21G|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	7					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGGCTCCCCCAGGAAAGGCCT	0.592																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(61-63)Agg>Ggg		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						69.0	57.0	61.0					12																	52306277		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52306277A>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.19A>G	12.37:g.52306277A>G	ENSP00000373574:p.Arg7Gly					ACVRL1_ENST00000388922.4_Missense_Mutation_p.R7G|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G	p.R21G	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	1	162	+			7					A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.61A>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741447	0.15642	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.91686	-2.04;-2.89;-2.1;-2.19	5.28	0.15	0.14883	.	0.323065	0.22376	N	0.060864	T	0.77948	0.4207	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.064;0.016	B;B	0.12156	0.004;0.007	T	0.66077	-0.6013	10	0.36615	T	0.2	.	4.0475	0.09779	0.533:0.1789:0.288:0.0	.	21;7	E7EN07;P37023	.;ACVL1_HUMAN	G	7;7;21;21;21;21	ENSP00000373574:R7G;ENSP00000446724:R21G;ENSP00000447884:R21G;ENSP00000392492:R21G	ENSP00000267008:R7G	R	+	1	2	ACVRL1	50592544	0.212000	0.23540	0.001000	0.08648	0.016000	0.09150	0.702000	0.25631	0.105000	0.17753	0.533000	0.62120	AGG		0.592	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			5	26	0	0	0	1	0	5	26				
SLITRK5	26050	broad.mit.edu	37	13	88330033	88330033	+	Missense_Mutation	SNP	A	A	C	rs11840163	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr13:88330033A>C	ENST00000325089.6	+	2	2609	c.2390A>C	c.(2389-2391)cAg>cCg	p.Q797P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q556P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	797					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					cagcagcagcagccgccgccg	0.667													A|||	11	0.00219649	0.0068	0.0014	5008	,	,		9612	0.0		0.001	False		,,,				2504	0.0					ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2389-2391)cAg>cCg		SLIT and NTRK-like family, member 5		A	PRO/GLN	12,4100		0,12,2044	10.0	13.0	12.0		2390	-0.5	0.0	13	dbSNP_120	12	0,8060		0,0,4030	yes	missense	SLITRK5	NM_015567.1	76	0,12,6074	CC,CA,AA		0.0,0.2918,0.0986	possibly-damaging	797/959	88330033	12,12160	2056	4030	6086	SO:0001583	missense	26050					integral to membrane		g.chr13:88330033A>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2390A>C	13.37:g.88330033A>C	ENSP00000366283:p.Gln797Pro					SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q556P	p.Q797P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2609	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		797					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2390A>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.475059	0.01035	0.002918	0.0	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58652	0.32;0.64	5.14	-0.494	0.12034	.	.	.	.	.	T	0.31451	0.0797	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19844	-1.0293	8	.	.	.	.	8.3959	0.32557	0.4972:0.4204:0.0:0.0824	rs11840163	556;797	B4DSH5;O94991	.;SLIK5_HUMAN	P	797;556	ENSP00000366283:Q797P;ENSP00000442244:Q556P	.	Q	+	2	0	SLITRK5	87128034	0.987000	0.35691	0.001000	0.08648	0.263000	0.26337	0.922000	0.28734	-0.048000	0.13401	-1.887000	0.00540	CAG		0.667	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			3	22	0	0	0	1	0	3	22				
SAMD9L	219285	broad.mit.edu	37	7	92763220	92763220	+	Nonsense_Mutation	SNP	G	G	A	rs369074740		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr7:92763220G>A	ENST00000318238.4	-	5	3281	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R689*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R689*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	689					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCACCTCGATAAAAGTGT	0.333																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2065-2067)Cga>Tga		sterile alpha motif domain containing 9-like		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	58.0	57.0		2065	4.8	1.0	7		57	0,8598		0,0,4299	no	stop-gained	SAMD9L	NM_152703.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		689/1585	92763220	1,13003	2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92763220G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2065C>T	7.37:g.92763220G>A	ENSP00000326247:p.Arg689*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R689*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R689*	p.R689*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3281	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		689					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.2065C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	47	13.076947	0.99718	2.27E-4	0.0	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.77	4.77	0.60923	.	0.094899	0.42172	D	0.000760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4538	17.5752	0.87946	0.0:0.0:1.0:0.0	.	.	.	.	X	689	.	ENSP00000326247:R689X	R	-	1	2	SAMD9L	92601156	0.988000	0.35896	1.000000	0.80357	0.351000	0.29236	2.518000	0.45537	2.490000	0.84030	0.467000	0.42956	CGA		0.333	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		12	74	0	0	0	1	0	12	74				
PDE7A	5150	broad.mit.edu	37	8	66701169	66701169	+	Intron	SNP	A	A	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:66701169A>C	ENST00000401827.3	-	2	582				PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000379419.4_Missense_Mutation_p.I3S	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GATCAATGTAATTCCCATTGG	0.418																																						ENST00000379419.4																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(7-9)aTt>aGt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						127.0	115.0	119.0					8																	66701169		2203	4300	6503	SO:0001627	intron_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66701169A>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.139-6091T>G	8.37:g.66701169A>C						PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	p.I3S	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	150	-			0					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.8T>G	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250216	0.80024	.	.	ENSG00000205268	ENST00000379419;ENST00000523253	T;T	0.70282	-0.47;0.6	5.62	5.62	0.85841	.	0.780131	0.12652	N	0.450382	T	0.70824	0.3268	.	.	.	0.80722	D	1	P	0.46512	0.879	B	0.42916	0.402	T	0.73496	-0.3964	9	0.87932	D	0	.	15.3002	0.73945	1.0:0.0:0.0:0.0	.	3	Q13946-2	.	S	3	ENSP00000368730:I3S;ENSP00000430262:I3S	ENSP00000368730:I3S	I	-	2	0	PDE7A	66863723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.555000	0.73928	2.257000	0.74773	0.455000	0.32223	ATT		0.418	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			38	87	0	0	0	1	0	38	87				
NEDD9	4739	broad.mit.edu	37	6	11213711	11213711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:11213711G>A	ENST00000379446.5	-	2	428	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	88					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGCTTCTGTTGGCCAAAGGTC	0.557																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(262-264)Caa>Taa		neural precursor cell expressed, developmentally down-regulated 9							156.0	150.0	152.0					6																	11213711		2203	4300	6503	SO:0001587	stop_gained	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213711G>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.262C>T	6.37:g.11213711G>A	ENSP00000368759:p.Gln88*					RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*	p.Q88*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	428	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	88					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Nonsense_Mutation	SNP	ENST00000379446.5	37	c.262C>T	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	39	7.550673	0.98352	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	.	.	.	6.08	6.08	0.98989	.	0.240007	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-7.4685	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000368745:Q88X	Q	-	1	0	NEDD9	11321697	1.000000	0.71417	0.978000	0.43139	0.976000	0.68499	5.111000	0.64628	2.894000	0.99253	0.655000	0.94253	CAA		0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		3	71	0	0	0	1	0	3	71				
C1orf131	128061	broad.mit.edu	37	1	231362810	231362810	+	Missense_Mutation	SNP	C	C	T	rs542541652	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:231362810C>T	ENST00000366649.2	-	4	540	c.515G>A	c.(514-516)cGt>cAt	p.R172H	C1orf131_ENST00000366651.3_Missense_Mutation_p.R171H|C1orf131_ENST00000318906.2_Missense_Mutation_p.R172H			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	172							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CACTTCTAAACGAGCCTGCGG	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19287	0.0		0.0	False		,,,				2504	0.0					ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(514-516)cGt>cAt		chromosome 1 open reading frame 131							92.0	82.0	86.0					1																	231362810		2203	4300	6503	SO:0001583	missense	128061							g.chr1:231362810C>T	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.515G>A	1.37:g.231362810C>T	ENSP00000355609:p.Arg172His					C1orf131_ENST00000366649.2_Missense_Mutation_p.R172H|C1orf131_ENST00000366651.3_Missense_Mutation_p.R171H	p.R172H			Q8NDD1	CA131_HUMAN			4	543	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	172					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.515G>A	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956108	0.73902	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.63255	-0.03;-0.03;2.57;2.49	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.83118	2.625	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.83237	-0.0060	10	0.87932	D	0	-10.1631	15.5804	0.76432	0.0:1.0:0.0:0.0	.	171;172;171;172	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	H	172;172;171;142;135	ENSP00000355609:R172H;ENSP00000321341:R172H;ENSP00000355611:R171H;ENSP00000401677:R135H	ENSP00000321341:R172H	R	-	2	0	C1orf131	229429433	1.000000	0.71417	0.979000	0.43373	0.223000	0.24884	5.877000	0.69675	2.663000	0.90544	0.585000	0.79938	CGT		0.483	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		4	33	0	0	0	1	0	4	33				
SNRPN	6638	broad.mit.edu	37	15	25223426	25223426	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:25223426C>T	ENST00000400100.1	+	12	1536	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	SNRPN_ENST00000577565.1_Missense_Mutation_p.P216S|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Missense_Mutation_p.P220S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.P216S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P216S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P216S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P220S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P216S|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	216	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AATAGGCATGCCGCCTCCGGG	0.562									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(658-660)Ccg>Tcg		small nuclear ribonucleoprotein polypeptide N							123.0	121.0	122.0					15																	25223426		1899	4109	6008	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223426C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.646C>T	15.37:g.25223426C>T	ENSP00000382972:p.Pro216Ser					SNRPN_ENST00000400098.1_Missense_Mutation_p.P216S|SNRPN_ENST00000346403.6_Missense_Mutation_p.P216S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P216S|SNRPN_ENST00000577565.1_Missense_Mutation_p.P216S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P220S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.P216S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P216S	p.P220S			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1697	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	216			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.658C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707243	0.48412	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	3.83	2.92	0.33932	.	0.110578	0.64402	D	0.000006	T	0.46619	0.1402	M	0.75615	2.305	0.80722	D	1	B;B	0.19445	0.036;0.036	B;B	0.19391	0.025;0.025	T	0.52616	-0.8552	10	0.87932	D	0	-1.8552	9.577	0.39463	0.0:0.8941:0.0:0.1059	.	220;216	B3KVR1;P63162	.;RSMN_HUMAN	S	216;216;216;220;216;220;75	ENSP00000382972:P216S;ENSP00000382970:P216S;ENSP00000382969:P216S;ENSP00000452342:P220S;ENSP00000375105:P216S;ENSP00000408767:P220S	ENSP00000306223:P75S	P	+	1	0	SNRPN;SNURF	22774519	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.652000	0.74377	1.203000	0.43233	0.591000	0.81541	CCG		0.562	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		4	133	0	0	0	1	0	4	133				
RYR3	6263	broad.mit.edu	37	15	34157424	34157424	+	Silent	SNP	A	A	C	rs370824147		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:34157424A>C	ENST00000389232.4	+	104	14680	c.14610A>C	c.(14608-14610)ggA>ggC	p.G4870G	AVEN_ENST00000558136.1_5'Flank|RYR3_ENST00000415757.3_Silent_p.G4865G|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4870					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAGCTTGGATAAATCTGAA	0.393																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(14608-14610)ggA>ggC		ryanodine receptor 3							81.0	83.0	83.0					15																	34157424		2123	4268	6391	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34157424A>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14610A>C	15.37:g.34157424A>C						RYR3_ENST00000415757.3_Silent_p.G4865G	p.G4870G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	104	14680	+		all_lung(180;7.18e-09)	4870					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.14610A>C	CCDS45210.1																																																																																				0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	28	0	0	0	1	0	5	28				
TMEM40	55287	broad.mit.edu	37	3	12785418	12785418	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr3:12785418G>A	ENST00000314124.7	-	4	638	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435218.2_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	94						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CGTTCCCGTGGGGGTATCCAG	0.542																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(280-282)ccC>ccT		transmembrane protein 40							83.0	81.0	82.0					3																	12785418		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12785418G>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.282C>T	3.37:g.12785418G>A						TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435575.1_Intron	p.P94P	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			4	638	-			94					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.282C>T	CCDS2613.1																																																																																				0.542	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		3	56	0	0	0	1	0	3	56				
CDH7	1005	broad.mit.edu	37	18	63481745	63481745	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr18:63481745C>T	ENST00000397968.2	+	4	956	c.530C>T	c.(529-531)gCg>gTg	p.A177V	CDH7_ENST00000536984.2_Missense_Mutation_p.A177V|CDH7_ENST00000323011.3_Missense_Mutation_p.A177V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAGTGACAGCGACGGATGCT	0.438																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(529-531)gCg>gTg		cadherin 7, type 2							187.0	174.0	179.0					18																	63481745		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63481745C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.530C>T	18.37:g.63481745C>T	ENSP00000381058:p.Ala177Val					CDH7_ENST00000397968.2_Missense_Mutation_p.A177V|CDH7_ENST00000323011.3_Missense_Mutation_p.A177V	p.A177V			Q9ULB5	CADH7_HUMAN			4	1224	+		Esophageal squamous(42;0.129)	177			Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.530C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423577	0.96111	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59364	0.27;0.27;0.27	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81230	0.4779	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84301	0.0505	10	0.87932	D	0	.	19.6512	0.95812	0.0:1.0:0.0:0.0	.	177;177	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	177	ENSP00000319166:A177V;ENSP00000443030:A177V;ENSP00000381058:A177V	ENSP00000319166:A177V	A	+	2	0	CDH7	61632725	1.000000	0.71417	0.963000	0.40424	0.904000	0.53231	7.330000	0.79181	2.712000	0.92718	0.591000	0.81541	GCG		0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	108	0	0	0	1	0	4	108				
CDH23	64072	broad.mit.edu	37	10	73326638	73326638	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:73326638T>A	ENST00000224721.6	+	6	589	c.584T>A	c.(583-585)aTc>aAc	p.I195N	CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N|CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCACAGTGATCCGGGAGCTG	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(583-585)aTc>aAc		cadherin-related 23							44.0	47.0	46.0					10																	73326638		2050	4181	6231	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73326638T>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.584T>A	10.37:g.73326638T>A	ENSP00000224721:p.Ile195Asn					CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N	p.I195N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			6	589	+			190			Cadherin 2.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.584T>A		.	.	.	.	.	.	.	.	.	.	T	16.34	3.097059	0.56075	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01998	4.51;4.51	5.7	0.248	0.15526	Cadherin (4);Cadherin-like (1);	0.255042	0.29660	N	0.011526	T	0.02727	0.0082	N	0.04508	-0.205	0.80722	D	1	B;B;P;D	0.76494	0.181;0.02;0.479;0.999	B;B;B;D	0.81914	0.066;0.027;0.231;0.995	T	0.61893	-0.6969	10	0.20046	T	0.44	.	9.4679	0.38824	0.0:0.3094:0.0:0.6906	.	190;190;190;190	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	N	195;190;190;190;190;195;195;131	ENSP00000381789:I190N;ENSP00000381822:I190N	ENSP00000224721:I195N	I	+	2	0	CDH23	72996644	0.395000	0.25254	0.986000	0.45419	0.912000	0.54170	0.134000	0.15932	-0.191000	0.10448	0.459000	0.35465	ATC		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	36	0	0	0	1	0	5	36				
MAOA	4128	broad.mit.edu	37	X	43590980	43590980	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:43590980G>A	ENST00000338702.3	+	8	958	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	MAOA_ENST00000542639.1_Missense_Mutation_p.A146T	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	279					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GACCTTGACTGCCAAGATTCA	0.443																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(835-837)Gcc>Acc		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						127.0	101.0	110.0					X																	43590980		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43590980G>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.835G>A	X.37:g.43590980G>A	ENSP00000340684:p.Ala279Thr					MAOA_ENST00000542639.1_Missense_Mutation_p.A146T	p.A279T	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			8	958	+			279					B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.835G>A	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	G	1.800	-0.477359	0.04414	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92858	-3.12;-3.12	5.8	1.58	0.23477	Amine oxidase (1);	0.848527	0.11044	N	0.605760	T	0.77785	0.4182	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.63093	-0.6714	10	0.07813	T	0.8	.	3.768	0.08630	0.3589:0.0:0.3507:0.2904	.	279	P21397	AOFA_HUMAN	T	279;146	ENSP00000340684:A279T;ENSP00000440846:A146T	ENSP00000340684:A279T	A	+	1	0	MAOA	43475924	0.369000	0.25039	0.218000	0.23776	0.129000	0.20672	0.927000	0.28818	0.219000	0.20840	0.538000	0.68166	GCC		0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		17	30	0	0	0	1	0	17	30				
CITED2	10370	broad.mit.edu	37	6	139694303	139694303	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:139694303A>T	ENST00000367651.2	-	2	994	c.779T>A	c.(778-780)gTg>gAg	p.V260E	CITED2_ENST00000536159.1_Missense_Mutation_p.V260E|CITED2_ENST00000537332.1_Missense_Mutation_p.V260E	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	260					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTGTTTGCACACGAAGTCCGT	0.488																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(778-780)gTg>gAg		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							73.0	78.0	76.0					6																	139694303		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694303A>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.779T>A	6.37:g.139694303A>T	ENSP00000356623:p.Val260Glu					CITED2_ENST00000537332.1_Missense_Mutation_p.V260E|CITED2_ENST00000536159.1_Missense_Mutation_p.V260E	p.V260E	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	994	-	Breast(32;0.226)		260					O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.779T>A	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768475	0.69878	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.68624	-0.34;-0.34;-0.34	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000007	T	0.68686	0.3028	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68565	-0.5375	9	.	.	.	-5.7376	15.9141	0.79496	1.0:0.0:0.0:0.0	.	260	Q99967	CITE2_HUMAN	E	260;260;260;204	ENSP00000356623:V260E;ENSP00000442831:V260E;ENSP00000444198:V260E	.	V	-	2	0	CITED2	139735996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.875000	0.92372	2.156000	0.67533	0.533000	0.62120	GTG		0.488	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			4	96	0	0	0	1	0	4	96				
NOX3	50508	broad.mit.edu	37	6	155750120	155750120	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:155750120G>A	ENST00000159060.2	-	9	1055	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	318	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGCCCTGGCGCCATTTTAAA	0.542																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(952-954)gCg>gTg		NADPH oxidase 3							88.0	88.0	88.0					6																	155750120		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750120G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.953C>T	6.37:g.155750120G>A	ENSP00000159060:p.Ala318Val						p.A318V	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1055	-		Breast(66;0.0183)	318			FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.953C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884598	0.72410	.	.	ENSG00000074771	ENST00000159060	D	0.92495	-3.05	5.78	2.64	0.31445	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.093860	0.45867	D	0.000332	T	0.77280	0.4107	N	0.17474	0.49	0.35509	D	0.800476	D	0.57257	0.979	B	0.43680	0.427	T	0.78183	-0.2303	10	0.62326	D	0.03	-18.7747	8.198	0.31409	0.0:0.2038:0.2835:0.5127	.	318	Q9HBY0	NOX3_HUMAN	V	318	ENSP00000159060:A318V	ENSP00000159060:A318V	A	-	2	0	NOX3	155791812	0.999000	0.42202	0.485000	0.27403	0.946000	0.59487	2.980000	0.49321	0.729000	0.32403	0.557000	0.71058	GCG		0.542	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			9	94	0	0	0	1	0	9	94				
CUL4A	8451	broad.mit.edu	37	13	113909105	113909105	+	Silent	SNP	G	G	A	rs200453565		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr13:113909105G>A	ENST00000375440.4	+	17	1935	c.1851G>A	c.(1849-1851)acG>acA	p.T617T	CUL4A_ENST00000326335.4_Silent_p.T517T|CUL4A_ENST00000375441.3_Silent_p.T517T|CUL4A_ENST00000451881.1_Silent_p.T517T	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	617					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAATGGCCACGGGGATAGGTA	0.448																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1549-1551)acG>acA		cullin 4A		G	,	1,4405	2.1+/-5.4	0,1,2202	95.0	92.0	93.0		1851,1551	-10.6	0.2	13		93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CUL4A	NM_001008895.1,NM_003589.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	617/760,517/660	113909105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113909105G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1851G>A	13.37:g.113909105G>A						CUL4A_ENST00000326335.4_Silent_p.T517T|CUL4A_ENST00000375440.4_Silent_p.T617T|CUL4A_ENST00000375441.3_Silent_p.T517T	p.T517T	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		17	1800	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	617					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1551G>A	CCDS41908.1																																																																																				0.448	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		27	55	0	0	0	1	0	27	55				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	33	0	0	0	1	0	3	33				
SI	6476	broad.mit.edu	37	3	164716358	164716358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr3:164716358G>A	ENST00000264382.3	-	38	4572	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1504	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGTCCCATCGTGCATAGTTG	0.403										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4510-4512)Cga>Tga		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						203.0	179.0	187.0					3																	164716358		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164716358G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4510C>T	3.37:g.164716358G>A	ENSP00000264382:p.Arg1504*	HNSCC(35;0.089)					p.R1504*	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			38	4572	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1504			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.4510C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	40	8.402375	0.98796	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.76	-6.2	0.02072	.	2.336390	0.01527	N	0.018611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	12.35	0.55143	0.0:0.1777:0.1292:0.6931	.	.	.	.	X	1504	.	ENSP00000264382:R1504X	R	-	1	2	SI	166199052	0.000000	0.05858	0.001000	0.08648	0.670000	0.39368	-2.605000	0.00889	-0.915000	0.03823	0.650000	0.86243	CGA		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		20	78	0	0	0	1	0	20	78				
GPR3	2827	broad.mit.edu	37	1	27720644	27720644	+	Silent	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:27720644C>T	ENST00000374024.3	+	2	441	c.342C>T	c.(340-342)ggC>ggT	p.G114G		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	114					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTGGTTGGCGTGCTGGCAA	0.602																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(340-342)ggC>ggT		G protein-coupled receptor 3							97.0	89.0	92.0					1																	27720644		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720644C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.342C>T	1.37:g.27720644C>T							p.G114G	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	441	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	114					A8K570	Silent	SNP	ENST00000374024.3	37	c.342C>T	CCDS303.1																																																																																				0.602	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		16	70	0	0	0	1	0	16	70				
TSSC4	10078	broad.mit.edu	37	11	2427341	2427341	+	IGR	SNP	T	T	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:2427341T>G	ENST00000333256.6	+	0	1686				TRPM5_ENST00000155858.6_Intron|TRPM5_ENST00000533060.1_Missense_Mutation_p.T1086P|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Intron|TRPM5_ENST00000528453.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCAGGTGGTCAGGCTGTGG	0.637																																						ENST00000533060.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(3256-3258)Acc>Ccc		transient receptor potential cation channel, subfamily M, member 5							77.0	62.0	67.0					11																	2427341		2202	4299	6501	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2427341T>G	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427341T>G						TRPM5_ENST00000528453.1_Intron|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Intron|TRPM5_ENST00000452833.1_Intron	p.T1086P			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	22	3261	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1083					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3256A>C	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	T	7.593	0.671082	0.14776	.	.	ENSG00000070985	ENST00000533060	T	0.61158	0.13	2.72	-3.31	0.04988	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	7	.	.	.	.	1.5519	0.02577	0.1238:0.3565:0.2191:0.3007	.	1086	E9PRW0	.	P	1086	ENSP00000434121:T1086P	.	T	-	1	0	TRPM5	2383917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.617000	0.02051	-0.811000	0.04369	-0.369000	0.07265	ACC		0.637	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		5	23	0	0	0	1	0	5	23				
NOX4	50507	broad.mit.edu	37	11	89070616	89070616	+	Splice_Site	SNP	T	T	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:89070616T>A	ENST00000263317.4	-	16	1752	c.1514A>T	c.(1513-1515)cAg>cTg	p.Q505L	NOX4_ENST00000532825.1_Splice_Site_p.Q441L|NOX4_ENST00000525196.1_Splice_Site_p.Q269L|NOX4_ENST00000535633.1_Splice_Site_p.Q481L|NOX4_ENST00000424319.1_Splice_Site_p.Q481L|NOX4_ENST00000343727.5_Splice_Site_p.Q481L|NOX4_ENST00000375979.3_Splice_Site_p.Q198L|NOX4_ENST00000413594.2_Splice_Site_p.Q526L|NOX4_ENST00000531342.1_Splice_Site_p.Q158L|NOX4_ENST00000534731.1_Splice_Site_p.Q465L|NOX4_ENST00000528341.1_Splice_Site_p.Q480L|NOX4_ENST00000527956.1_Splice_Site_p.Q481L|NOX4_ENST00000542487.1_Splice_Site_p.Q481L|NOX4_ENST00000527626.1_Splice_Site_p.Q318L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	505	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACATACCTGTATCCCATC	0.408																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e16+1		NADPH oxidase 4							67.0	59.0	62.0					11																	89070616		2201	4298	6499	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89070616T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1515+1A>T	11.37:g.89070616T>A						NOX4_ENST00000525196.1_Splice_Site_p.Q269_splice|NOX4_ENST00000375979.3_Splice_Site_p.Q198_splice|NOX4_ENST00000263317.4_Splice_Site_p.Q505_splice|NOX4_ENST00000527626.1_Splice_Site_p.Q318_splice|NOX4_ENST00000542487.1_Splice_Site_p.Q481_splice|NOX4_ENST00000424319.1_Splice_Site_p.Q481_splice|NOX4_ENST00000528341.1_Splice_Site_p.Q480_splice|NOX4_ENST00000532825.1_Splice_Site_p.Q441_splice|NOX4_ENST00000534731.1_Splice_Site_p.Q465_splice|NOX4_ENST00000413594.2_Splice_Site_p.Q526_splice|NOX4_ENST00000527956.1_Splice_Site_p.Q481_splice|NOX4_ENST00000531342.1_Splice_Site_p.Q158_splice|NOX4_ENST00000343727.5_Splice_Site_p.Q481_splice	p.Q481_splice	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			16	1752	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	505			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1443_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326565	0.81690	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;T;T;D;T;D;D;D;D;D;T;D	0.95035	-3.59;-3.59;-3.59;-0.05;-0.05;-3.59;-0.05;-3.59;-3.59;-3.41;-3.59;-3.59;-0.05;-3.59	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.260219	0.38548	N	0.001658	D	0.95865	0.8654	L	0.52266	1.64	0.58432	D	0.999999	P;D;D;D;D;P;P;B	0.89917	0.941;0.976;1.0;0.997;0.99;0.473;0.765;0.254	P;D;D;D;D;B;B;B	0.77557	0.856;0.935;0.99;0.973;0.92;0.088;0.378;0.16	D	0.95398	0.8487	9	.	.	.	-5.4174	14.7147	0.69259	0.0:0.0:0.0:1.0	.	441;318;480;269;158;198;465;505	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	L	481;481;481;465;269;505;441;481;481;318;480;526;158;198	ENSP00000412446:Q481L;ENSP00000440172:Q481L;ENSP00000344747:Q481L;ENSP00000436892:Q465L;ENSP00000436716:Q269L;ENSP00000263317:Q505L;ENSP00000434924:Q441L;ENSP00000433797:Q481L;ENSP00000439373:Q481L;ENSP00000436093:Q318L;ENSP00000436970:Q480L;ENSP00000405705:Q526L;ENSP00000435039:Q158L;ENSP00000365146:Q198L	.	Q	-	2	0	NOX4	88710264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.205000	0.77881	1.947000	0.56498	0.455000	0.32223	CAG		0.408	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Missense_Mutation	3	49	0	0	0	1	0	3	49				
RBP3	5949	broad.mit.edu	37	10	48388029	48388029	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:48388029T>C	ENST00000224600.4	-	1	2962	c.2849A>G	c.(2848-2850)gAt>gGt	p.D950G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	950	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCATAGTTATCAGCCACCAG	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2848-2850)gAt>gGt		retinol binding protein 3, interstitial	Vitamin A(DB00162)						58.0	58.0	58.0					10																	48388029		2202	4300	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388029T>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2849A>G	10.37:g.48388029T>C	ENSP00000224600:p.Asp950Gly						p.D950G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2962	-			950			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2849A>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847122	0.32606	.	.	ENSG00000107618	ENST00000224600	T	0.65916	-0.18	5.56	5.56	0.83823	.	0.191149	0.53938	D	0.000045	T	0.72309	0.3444	M	0.81497	2.545	0.51233	D	0.999913	D	0.56521	0.976	P	0.50109	0.631	T	0.78079	-0.2344	10	0.87932	D	0	-24.6499	14.9032	0.70696	0.0:0.0:0.0:1.0	.	950	P10745	RET3_HUMAN	G	950	ENSP00000224600:D950G	ENSP00000224600:D950G	D	-	2	0	RBP3	48008035	1.000000	0.71417	0.985000	0.45067	0.172000	0.22775	5.622000	0.67750	2.133000	0.65898	0.533000	0.62120	GAT		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		20	38	0	0	0	1	0	20	38				
PID1	55022	broad.mit.edu	37	2	229890709	229890709	+	Missense_Mutation	SNP	G	G	A	rs200100687		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:229890709G>A	ENST00000354069.6	-	3	422	c.392C>T	c.(391-393)cCg>cTg	p.P131L	PID1_ENST00000392054.3_Missense_Mutation_p.P129L|PID1_ENST00000392055.3_Missense_Mutation_p.P98L|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.P49L			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	131	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCATTGGCCGGAAAGACATC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20200	0.0		0.0	False		,,,				2504	0.001					ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(385-387)cCg>cTg		phosphotyrosine interaction domain containing 1							89.0	86.0	87.0					2																	229890709		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890709G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.392C>T	2.37:g.229890709G>A	ENSP00000283937:p.Pro131Leu					PID1_ENST00000409462.1_Missense_Mutation_p.P49L|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.P131L|PID1_ENST00000392055.3_Missense_Mutation_p.P98L	p.P129L	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	725	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	131			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.386C>T		.	.	.	.	.	.	.	.	.	.	G	18.51	3.639776	0.67244	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.3	4.36	0.52297	Pleckstrin homology-type (1);	0.103213	0.64402	D	0.000002	T	0.42944	0.1225	L	0.38175	1.15	0.58432	D	0.999999	P;P;D;D	0.59357	0.873;0.706;0.981;0.985	B;B;B;B	0.42030	0.013;0.013;0.373;0.307	T	0.35301	-0.9794	8	.	.	.	-17.2813	14.8344	0.70172	0.0:0.1443:0.8557:0.0	.	49;98;129;131	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	L	129;49;98;131;131	.	.	P	-	2	0	PID1	229598953	1.000000	0.71417	0.978000	0.43139	0.926000	0.56050	7.060000	0.76692	2.645000	0.89757	0.655000	0.94253	CCG		0.547	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		3	43	0	0	0	1	0	3	43				
MALAT1	378938	broad.mit.edu	37	11	65266350	65266350	+	lincRNA	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:65266350C>T	ENST00000534336.1	+	0	1118				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGTTTGCATTCAAGTTCCATA	0.348																																						ENST00000534336.1																			0																				79.0	86.0	84.0					11																	65266350		874	1988	2862			0							g.chr11:65266350C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266350C>T								NR_002819.2						0	1118	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.348	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	56	0	0	0	1	0	6	56				
CNTNAP5	129684	broad.mit.edu	37	2	125262091	125262091	+	Missense_Mutation	SNP	G	G	A	rs368773037		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:125262091G>A	ENST00000431078.1	+	8	1646	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGAGACTCGTGATTCAGAA	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1282-1284)Gtg>Atg		contactin associated protein-like 5		G	MET/VAL	0,3928		0,0,1964	66.0	70.0	69.0		1282	-0.8	0.0	2		69	1,8309		0,1,4154	no	missense	CNTNAP5	NM_130773.2	21	0,1,6118	AA,AG,GG		0.012,0.0,0.0082	benign	428/1307	125262091	1,12237	1964	4155	6119	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262091G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1282G>A	2.37:g.125262091G>A	ENSP00000399013:p.Val428Met						p.V428M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1646	+			428			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1282G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536338	0.13188	0.0	1.2E-4	ENSG00000155052	ENST00000431078	T	0.79653	-1.29	5.64	-0.832	0.10785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.808315	0.10287	N	0.692860	T	0.68357	0.2992	L	0.33485	1.01	0.09310	N	1	P	0.37466	0.596	B	0.33620	0.167	T	0.50964	-0.8765	10	0.30854	T	0.27	.	12.1079	0.53823	0.1303:0.5761:0.2936:0.0	.	428	Q8WYK1	CNTP5_HUMAN	M	428	ENSP00000399013:V428M	ENSP00000399013:V428M	V	+	1	0	CNTNAP5	124978561	0.001000	0.12720	0.008000	0.14137	0.516000	0.34256	0.036000	0.13819	-0.510000	0.06523	-0.181000	0.13052	GTG		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	45	0	0	0	1	0	6	45				
MXRA5	25878	broad.mit.edu	37	X	3240659	3240659	+	Missense_Mutation	SNP	T	T	C	rs373344927		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:3240659T>C	ENST00000217939.6	-	5	3221	c.3067A>G	c.(3067-3069)Ata>Gta	p.I1023V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1023						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCCCCTATAGTAGAATCC	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3067-3069)Ata>Gta		matrix-remodelling associated 5							169.0	147.0	155.0					X																	3240659		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240659T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3067A>G	X.37:g.3240659T>C	ENSP00000217939:p.Ile1023Val						p.I1023V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3221	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1023					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3067A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.653701	0.00779	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60171	0.21	2.83	-5.66	0.02451	.	2.723000	0.02096	N	0.053499	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	10	0.02654	T	1	.	0.303	0.00276	0.3226:0.1297:0.2479:0.2998	.	1023	Q9NR99	MXRA5_HUMAN	V	1023	ENSP00000217939:I1023V	ENSP00000217939:I1023V	I	-	1	0	MXRA5	3250659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.591000	0.05753	-1.806000	0.01237	-1.653000	0.00756	ATA		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		45	26	0	0	0	1	0	45	26				
LINC01122	400955	broad.mit.edu	37	2	58687297	58687298	+	lincRNA	INS	-	-	T	rs142388743|rs199521338|rs570654914		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:58687297_58687298insT	ENST00000452840.1	+	0	127																											ATCTGTGTTTCTTTTTTTTTTC	0.312																																						ENST00000452840.1																			0																																																			0							g.chr2:58687297_58687298insT																													2.37:g.58687307_58687307dupT														0	127	+									RNA	INS	ENST00000452840.1	37																																																																																						0.312	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
