#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
FPGT	8790	broad.mit.edu	37	1	74670333	74670333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:74670333C>T	ENST00000609362.1	+	4	639	c.602C>T	c.(601-603)aCc>aTc	p.T201I	FPGT_ENST00000370898.3_Missense_Mutation_p.T214I|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	201					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACGATAGGTACCACACATGGA	0.363																																						ENST00000370898.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(601-603)aCc>aTc		fucose-1-phosphate guanylyltransferase							109.0	106.0	107.0					1																	74670333		2203	4300	6503	SO:0001583	missense	8790							g.chr1:74670333C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.602C>T	1.37:g.74670333C>T	ENSP00000476680:p.Thr201Ile					FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	p.T201I	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2					4	639	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.602C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768979	0.69992	.	.	ENSG00000254685	ENST00000370898	T	0.34859	1.34	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	T	0.58935	0.2157	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.61008	-0.7149	8	.	.	.	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	201	O14772	FPGT_HUMAN	I	201	ENSP00000359935:T201I	.	T	+	2	0	TNNI3K	74442921	1.000000	0.71417	0.966000	0.40874	0.777000	0.43975	7.487000	0.81328	2.618000	0.88619	0.591000	0.81541	ACC		0.363	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	70	0	0	0	1	0	5	70				
KRTAP5-6	440023	broad.mit.edu	37	11	1718850	1718850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:1718850C>A	ENST00000382160.1	+	1	426	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	125						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCATTTGCTGCCAGTGCAAAA	0.572																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(373-375)tgC>tgA		keratin associated protein 5-6							116.0	127.0	123.0					11																	1718850		2202	4299	6501	SO:0001587	stop_gained	440023					keratin filament		g.chr11:1718850C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.375C>A	11.37:g.1718850C>A	ENSP00000371595:p.Cys125*						p.C125*	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	426	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	125					A1L452	Nonsense_Mutation	SNP	ENST00000382160.1	37	c.375C>A	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665786	0.29604	.	.	ENSG00000205864	ENST00000382160	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.24143	N	0.995722	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9398	0.52894	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000371595:C125X	C	+	3	2	KRTAP5-6	1675426	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	4.202000	0.58446	1.838000	0.53458	0.525000	0.51046	TGC		0.572	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			18	104	1	0	9.16793e-09	1	1.05162e-08	18	104				
SNTG2	54221	broad.mit.edu	37	2	1271277	1271277	+	Silent	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:1271277C>A	ENST00000308624.5	+	14	1347	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	SNTG2_ENST00000407292.1_Silent_p.G279G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	406	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGAGCTTGGCAGCGAGCTGG	0.522																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1216-1218)ggC>ggA		syntrophin, gamma 2							48.0	48.0	48.0					2																	1271277		1970	4145	6115	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271277C>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1218C>A	2.37:g.1271277C>A						SNTG2_ENST00000407292.1_Silent_p.G279G	p.G406G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1347	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	406			PH.		Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1218C>A	CCDS46220.1																																																																																				0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		3	19	1	0	0.00909568	1	0.00927403	3	19				
DNAH7	56171	broad.mit.edu	37	2	196740432	196740432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:196740432C>T	ENST00000312428.6	-	38	6353	c.6253G>A	c.(6253-6255)Gac>Aac	p.D2085N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2085	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTGAATGTCCACTAGTTTA	0.393																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6253-6255)Gac>Aac		dynein, axonemal, heavy chain 7							83.0	77.0	79.0					2																	196740432		1869	4097	5966	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196740432C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6253G>A	2.37:g.196740432C>T	ENSP00000311273:p.Asp2085Asn						p.D2085N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			38	6353	-			2085			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6253G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589144	0.86851	.	.	ENSG00000118997	ENST00000312428	T	0.37235	1.21	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62586	-0.6823	10	0.41790	T	0.15	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	2085	Q8WXX0	DYH7_HUMAN	N	2085	ENSP00000311273:D2085N	ENSP00000311273:D2085N	D	-	1	0	DNAH7	196448677	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.629000	0.67798	2.550000	0.86006	0.655000	0.94253	GAC		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		14	28	0	0	0	1	0	14	28				
PLA2G6	8398	broad.mit.edu	37	22	38531073	38531073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:38531073G>C	ENST00000332509.3	-	6	999	c.816C>G	c.(814-816)atC>atG	p.I272M	PLA2G6_ENST00000402064.1_Missense_Mutation_p.I272M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.I272M	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	272					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGTCCATGCTGATGATCATCT	0.612																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(814-816)atC>atG		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						81.0	74.0	76.0					22																	38531073		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531073G>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.816C>G	22.37:g.38531073G>C	ENSP00000333142:p.Ile272Met					PLA2G6_ENST00000335539.3_Missense_Mutation_p.I272M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.I272M	p.I272M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	999	-	Melanoma(58;0.045)		272					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.816C>G	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.130280|3.130280	0.56721|0.56721	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	5.77|5.77	3.69|3.69	0.42338|0.42338	Ankyrin repeat-containing domain (3);|.	0.170082|.	0.51477|.	D|.	0.000094|.	T|.	0.67287|.	0.2877|.	M|M	0.83852|0.83852	2.665|2.665	0.38420|0.38420	D|D	0.94615|0.94615	D;B;B|.	0.60575|.	0.988;0.374;0.399|.	P;B;B|.	0.57846|.	0.828;0.165;0.258|.	T|.	0.68315|.	-0.5441|.	10|.	0.72032|.	D|.	0.01|.	-23.3843|-23.3843	5.9431|5.9431	0.19203|0.19203	0.0685:0.2485:0.5528:0.1302|0.0685:0.2485:0.5528:0.1302	.|.	237;272;272|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	M|X	272;133;272;272;200;272;237|77;24;103	ENSP00000333142:I272M;ENSP00000335149:I272M;ENSP00000386100:I272M|.	ENSP00000333142:I272M|.	I|S	-|-	3|2	3|0	PLA2G6|PLA2G6	36861019|36861019	0.119000|0.119000	0.22226|0.22226	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	-0.611000|-0.611000	0.05622|0.05622	0.787000|0.787000	0.33731|0.33731	0.561000|0.561000	0.74099|0.74099	ATC|TCA		0.612	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		15	32	0	0	0	1	0	15	32				
C10orf90	118611	broad.mit.edu	37	10	128193218	128193218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:128193218G>A	ENST00000284694.7	-	3	671	c.551C>T	c.(550-552)gCc>gTc	p.A184V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A281V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A184V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.A137V|C10orf90_ENST00000356858.3_Missense_Mutation_p.A137V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	184	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACCTGGATGGGCGCCATTGGC	0.647											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(550-552)gCc>gTc		chromosome 10 open reading frame 90							53.0	60.0	58.0					10																	128193218		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193218G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.551C>T	10.37:g.128193218G>A	ENSP00000284694:p.Ala184Val		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000392694.1_Missense_Mutation_p.A137V|C10orf90_ENST00000356858.3_Missense_Mutation_p.A137V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A184V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A281V	p.A184V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	671	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	184					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.551C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	1.581	-0.531591	0.04112	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.24538	2.17;2.17;2.17;2.17;1.85	4.9	-1.52	0.08637	.	1.146280	0.06414	N	0.721065	T	0.12902	0.0313	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.0;0.0	B;B;B;B;B	0.10450	0.004;0.004;0.005;0.001;0.001	T	0.32107	-0.9919	10	0.31617	T	0.26	-0.275	0.468	0.00527	0.2523:0.1376:0.328:0.2821	.	281;281;137;184;184	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	V	137;184;184;281;184;137;137	ENSP00000284694:A184V;ENSP00000398786:A184V;ENSP00000444369:A281V;ENSP00000405995:A184V;ENSP00000376459:A137V	ENSP00000284694:A184V	A	-	2	0	C10orf90	128183208	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.004000	0.12878	0.031000	0.15407	-0.122000	0.15005	GCC		0.647	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		25	64	0	0	0	1	0	25	64				
HMCN1	83872	broad.mit.edu	37	1	185902905	185902905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:185902905G>C	ENST00000271588.4	+	11	2006	c.1777G>C	c.(1777-1779)Gtt>Ctt	p.V593L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V593L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	593	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATTGTATGGTTTCTAGTGA	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1777-1779)Gtt>Ctt		hemicentin 1							155.0	151.0	152.0					1																	185902905		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902905G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1777G>C	1.37:g.185902905G>C	ENSP00000271588:p.Val593Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.V593L	p.V593L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			11	2006	+			593			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1777G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963996	0.34659	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71341	-0.56;-0.56	5.67	4.76	0.60689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.367897	0.29684	N	0.011474	T	0.70824	0.3268	L	0.60845	1.875	0.34457	D	0.701349	B	0.24823	0.112	B	0.33846	0.171	T	0.77819	-0.2446	10	0.72032	D	0.01	.	14.0542	0.64756	0.0725:0.0:0.9275:0.0	.	593	Q96RW7	HMCN1_HUMAN	L	593	ENSP00000271588:V593L;ENSP00000356462:V593L	ENSP00000271588:V593L	V	+	1	0	HMCN1	184169528	1.000000	0.71417	0.095000	0.20976	0.034000	0.12701	7.160000	0.77495	1.407000	0.46875	0.655000	0.94253	GTT		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	122	0	0	0	1	0	12	122				
AP5Z1	9907	broad.mit.edu	37	7	4820887	4820887	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:4820887C>T	ENST00000348624.4	+	2	217	c.123C>T	c.(121-123)acC>acT	p.T41T	AP5Z1_ENST00000401897.1_Silent_p.T41T	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	41					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGCCGGACACCCTCGACTCCC	0.602																																						ENST00000348624.4																			0											c.(121-123)acC>acT		adaptor-related protein complex 5, zeta 1 subunit							47.0	55.0	52.0					7																	4820887		2070	4224	6294	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820887C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.123C>T	7.37:g.4820887C>T						AP5Z1_ENST00000401897.1_Silent_p.T41T	p.T41T	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			2	217	+			41					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.123C>T	CCDS47528.1																																																																																				0.602	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			8	82	0	0	0	1	0	8	82				
COL5A3	50509	broad.mit.edu	37	19	10108062	10108062	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:10108062G>A	ENST00000264828.3	-	11	1333	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	416	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCAGGGTCGCCAGGGAATC	0.597																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1246-1248)ggC>ggT		collagen, type V, alpha 3							26.0	27.0	27.0					19																	10108062		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108062G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1248C>T	19.37:g.10108062G>A							p.G416G	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		11	1333	-			416			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.1248C>T	CCDS12222.1																																																																																				0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	17	0	0	0	1	0	3	17				
MTOR	2475	broad.mit.edu	37	1	11319340	11319340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:11319340C>A	ENST00000361445.4	-	2	203	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	43	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGCTGGAGCTCCTTGGCGGCT	0.557																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(127-129)Gag>Tag		mechanistic target of rapamycin (serine/threonine kinase)							115.0	114.0	114.0					1																	11319340		2203	4300	6503	SO:0001587	stop_gained	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11319340C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.127G>T	1.37:g.11319340C>A	ENSP00000354558:p.Glu43*						p.E43*	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			2	203	-			43					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Nonsense_Mutation	SNP	ENST00000361445.4	37	c.127G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813174	0.97857	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	.	.	.	5.7	5.7	0.88788	.	0.117787	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.7049	19.4425	0.94827	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000354558:E43X	E	-	1	0	MTOR	11241927	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.444000	0.80532	2.685000	0.91497	0.655000	0.94253	GAG		0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		20	95	1	0	7.45023e-12	1	8.87202e-12	20	95				
TDRD1	56165	broad.mit.edu	37	10	115947746	115947746	+	Silent	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:115947746T>C	ENST00000369280.1	+	2	616	c.156T>C	c.(154-156)aaT>aaC	p.N52N	TDRD1_ENST00000251864.2_Silent_p.N52N|TDRD1_ENST00000369281.2_Silent_p.N52N|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Silent_p.N52N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	52					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACCACCCTAATTTCAGGCTGA	0.358																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(154-156)aaT>aaC		tudor domain containing 1							103.0	109.0	107.0					10																	115947746		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947746T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.156T>C	10.37:g.115947746T>C						TDRD1_ENST00000369282.1_Silent_p.N52N|TDRD1_ENST00000369281.2_Silent_p.N52N|TDRD1_ENST00000369280.1_Silent_p.N52N|TDRD1_ENST00000422662.1_5'UTR	p.N52N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	2	309	+		Colorectal(252;0.172)|Breast(234;0.188)	52					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.156T>C																																																																																					0.358	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			10	82	0	0	0	1	0	10	82				
WHSC1L1	54904	broad.mit.edu	37	8	38162186	38162186	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:38162186T>C	ENST00000317025.8	-	14	3047	c.2530A>G	c.(2530-2532)Att>Gtt	p.I844V	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.I844V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.I844V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	844					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGATGAGAATGTAGGAGGAT	0.433			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2530-2532)Att>Gtt		Wolf-Hirschhorn syndrome candidate 1-like 1							132.0	127.0	128.0					8																	38162186		1921	4136	6057	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162186T>C	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2530A>G	8.37:g.38162186T>C	ENSP00000313983:p.Ile844Val					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.I844V|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.I844V	p.I844V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		14	3047	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	844					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2530A>G	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	4.234	0.042265	0.08196	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.94966	-3.57;-3.57;-3.57	5.72	-5.13	0.02884	Zinc finger, PHD-type (1);	0.616511	0.13872	N	0.356972	T	0.80929	0.4718	N	0.17474	0.49	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.69165	-0.5217	10	0.02654	T	1	.	2.3828	0.04358	0.1045:0.2732:0.3206:0.3016	.	844;844;844	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	V	844;844;781;844	ENSP00000393284:I844V;ENSP00000313983:I844V;ENSP00000434730:I844V	ENSP00000313983:I844V	I	-	1	0	WHSC1L1	38281343	0.924000	0.31332	0.002000	0.10522	0.889000	0.51656	-0.019000	0.12546	-0.621000	0.05633	0.528000	0.53228	ATT		0.433	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		15	92	0	0	0	1	0	15	92				
ULK4	54986	broad.mit.edu	37	3	41949376	41949376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:41949376C>T	ENST00000301831.4	-	12	1605	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	ULK4_ENST00000420927.1_Missense_Mutation_p.M381I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	381					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACAGTGAGTCATATCCTCAC	0.413																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1141-1143)atG>atA		unc-51 like kinase 4							114.0	116.0	115.0					3																	41949376		1886	4105	5991	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41949376C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1143G>A	3.37:g.41949376C>T	ENSP00000301831:p.Met381Ile					ULK4_ENST00000420927.1_Missense_Mutation_p.M381I	p.M381I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	12	1605	-			381					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1143G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892935	0.17613	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.65178	0.67;-0.14	5.68	-0.219	0.13135	.	1.707310	0.02130	N	0.056301	T	0.36026	0.0952	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	0.15378	-1.0439	10	0.15499	T	0.54	.	0.9107	0.01294	0.1457:0.2754:0.2838:0.2951	.	381;381	B4E2M4;Q96C45	.;ULK4_HUMAN	I	381	ENSP00000301831:M381I;ENSP00000412187:M381I	ENSP00000301831:M381I	M	-	3	0	ULK4	41924380	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.122000	0.15687	0.315000	0.23110	-0.140000	0.14226	ATG		0.413	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		6	26	0	0	0	1	0	6	26				
FCRL3	115352	broad.mit.edu	37	1	157667162	157667162	+	Silent	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:157667162C>A	ENST00000368184.3	-	6	903	c.612G>T	c.(610-612)ggG>ggT	p.G204G	FCRL3_ENST00000368186.5_Silent_p.G204G|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	204	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCATGGGACTCCCCTCTATGG	0.537																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(610-612)ggG>ggT		Fc receptor-like 3							66.0	70.0	69.0					1																	157667162		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667162C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.612G>T	1.37:g.157667162C>A						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.G204G	p.G204G	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			6	903	-	all_hematologic(112;0.0378)		204			Ig-like C2-type 3.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.612G>T	CCDS1167.1																																																																																				0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		5	64	1	0	0.0215528	1	0.0216918	5	64				
TAF4	6874	broad.mit.edu	37	20	60581737	60581737	+	Silent	SNP	C	C	T	rs200966805		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:60581737C>T	ENST00000252996.4	-	7	2051	c.2052G>A	c.(2050-2052)ccG>ccA	p.P684P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	684	Poly-Pro.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCGAGGTGGGCGGTGGCGGCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		13153	0.001		0.0	False		,,,				2504	0.0					ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2050-2052)ccG>ccA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							22.0	29.0	26.0					20																	60581737		2188	4271	6459	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581737C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2052G>A	20.37:g.60581737C>T						TAF4_ENST00000488539.1_5'UTR	p.P684P	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2051	-	Breast(26;1e-08)		684			Poly-Pro.|TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2052G>A	CCDS33500.1																																																																																				0.692	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		8	37	0	0	0	1	0	8	37				
PPM1B	5495	broad.mit.edu	37	2	44457630	44457630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:44457630G>C	ENST00000282412.4	+	6	1625	c.1213G>C	c.(1213-1215)Gga>Cga	p.G405R	PPM1B_ENST00000345249.4_Missense_Mutation_p.G118R|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	405					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAATCATAGGGGAAACTACCG	0.468																																						ENST00000282412.4																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1213-1215)Gga>Cga		protein phosphatase, Mg2+/Mn2+ dependent, 1B							88.0	92.0	91.0					2																	44457630		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457630G>C	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1213G>C	2.37:g.44457630G>C	ENSP00000282412:p.Gly405Arg					PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.G118R|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron	p.G405R	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN			6	1625	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	405					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1213G>C	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781368	0.70222	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	T	0.34667	1.35	5.19	5.19	0.71726	.	0.061263	0.64402	D	0.000005	T	0.50051	0.1593	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54450	-0.8292	10	0.87932	D	0	-17.7906	19.0653	0.93108	0.0:0.0:1.0:0.0	.	405	O75688	PPM1B_HUMAN	R	405;118	ENSP00000282412:G405R	ENSP00000282412:G405R	G	+	1	0	PPM1B	44311134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.103000	0.77014	2.572000	0.86782	0.591000	0.81541	GGA		0.468	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		14	63	0	0	0	1	0	14	63				
P2RX7	5027	broad.mit.edu	37	12	121615009	121615009	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:121615009C>T	ENST00000546057.1	+	10	1175	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	P2RX7_ENST00000535250.1_Silent_p.F254F|P2RX7_ENST00000541446.1_Silent_p.F55F|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Silent_p.F174F|P2RX7_ENST00000377162.2_Silent_p.F255F	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	344					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCTACTTCGGTCTGGTAA	0.463																																						ENST00000328963.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(520-522)ttC>ttT		purinergic receptor P2X, ligand-gated ion channel, 7							175.0	153.0	160.0					12																	121615009		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121615009C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1032C>T	12.37:g.121615009C>T						P2RX7_ENST00000377162.2_Silent_p.F255F|P2RX7_ENST00000535250.1_Silent_p.F254F|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Silent_p.F344F|P2RX7_ENST00000541446.1_Silent_p.F55F	p.F174F			A8K2Z0	A8K2Z0_HUMAN			9	976	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		344					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.522C>T	CCDS9213.1																																																																																				0.463	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		10	33	0	0	0	1	0	10	33				
BAZ2B	29994	broad.mit.edu	37	2	160289337	160289337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:160289337C>T	ENST00000392783.2	-	9	2326	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E611K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E609K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E609K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	611	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tcttcctcttcatcctcatTT	0.353																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1831-1833)Gaa>Aaa		bromodomain adjacent to zinc finger domain, 2B							85.0	85.0	85.0					2																	160289337		1995	4198	6193	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289337C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1831G>A	2.37:g.160289337C>T	ENSP00000376534:p.Glu611Lys					BAZ2B_ENST00000392782.1_Missense_Mutation_p.E609K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E611K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E609K	p.E611K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2326	-			611			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1831G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861645	0.51482	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.92	5.92	0.95590	.	0.581511	0.13712	U	0.368025	T	0.06917	0.0176	N	0.19112	0.55	0.37633	D	0.92174	P;P;B;B;B	0.39480	0.675;0.675;0.241;0.449;0.321	B;B;B;B;B	0.36666	0.23;0.154;0.109;0.154;0.073	T	0.30592	-0.9973	10	0.06236	T	0.91	-13.3201	19.9352	0.97137	0.0:1.0:0.0:0.0	.	611;415;609;609;611	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	K	609;611;611;609	ENSP00000376533:E609K;ENSP00000376534:E611K;ENSP00000348087:E611K;ENSP00000339670:E609K	ENSP00000339670:E609K	E	-	1	0	BAZ2B	159997583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.090000	0.57693	2.818000	0.97014	0.655000	0.94253	GAA		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			6	61	0	0	0	1	0	6	61				
NCKAP1	10787	broad.mit.edu	37	2	183822311	183822311	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:183822311T>C	ENST00000361354.4	-	19	2267	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.H638R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	632					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTGGCACAATGCTTGGGTAG	0.378																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1912-1914)cAt>cGt		NCK-associated protein 1							134.0	118.0	123.0					2																	183822311		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183822311T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1895A>G	2.37:g.183822311T>C	ENSP00000355348:p.His632Arg					NCKAP1_ENST00000361354.3_Missense_Mutation_p.H632R	p.H638R	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		20	2671	-			632					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1913A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617277	0.87359	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31769	1.48;1.48	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.80183	2.485	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.53401	0.725;0.604	T	0.57441	-0.7811	10	0.62326	D	0.03	-15.0391	15.0992	0.72258	0.0:0.0:0.0:1.0	.	632;638	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	632;638	ENSP00000355348:H632R;ENSP00000354251:H638R	ENSP00000354251:H638R	H	-	2	0	NCKAP1	183530556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.982000	0.88131	1.955000	0.56771	0.533000	0.62120	CAT		0.378	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		11	50	0	0	0	1	0	11	50				
UGGT2	55757	broad.mit.edu	37	13	96555301	96555301	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:96555301T>A	ENST00000376747.3	-	21	2379	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	770					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAACCGACTATGAACACTTGT	0.313																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2308-2310)cAt>cTt		UDP-glucose glycoprotein glucosyltransferase 2							47.0	49.0	48.0					13																	96555301		2202	4296	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555301T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2309A>T	13.37:g.96555301T>A	ENSP00000365938:p.His770Leu						p.H770L	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2379	-			770					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2309A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	1.772	-0.484082	0.04383	.	.	ENSG00000102595	ENST00000376747	T	0.07908	3.15	5.66	3.15	0.36227	.	0.285296	0.40554	N	0.001071	T	0.08802	0.0218	M	0.63428	1.95	0.09310	N	0.999996	B	0.15719	0.014	B	0.13407	0.009	T	0.34725	-0.9817	10	0.23891	T	0.37	-2.4253	6.4049	0.21658	0.139:0.0742:0.0:0.7868	.	770	Q9NYU1	UGGG2_HUMAN	L	770	ENSP00000365938:H770L	ENSP00000365938:H770L	H	-	2	0	UGGT2	95353302	0.994000	0.37717	0.183000	0.23137	0.353000	0.29299	1.544000	0.36158	0.387000	0.25024	0.528000	0.53228	CAT		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		10	41	0	0	0	1	0	10	41				
ZFP36L1	677	broad.mit.edu	37	14	69262996	69262996	+	5'Flank	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:69262996G>A	ENST00000336440.3	-	0	0				ZFP36L1_ENST00000408913.2_Missense_Mutation_p.R6C			Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGCGCTGCGGGTGTACGTA	0.592																																						ENST00000408913.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(16-18)Cgc>Tgc		ZFP36 ring finger protein-like 1							74.0	85.0	82.0					14																	69262996		1731	3381	5112	SO:0001631	upstream_gene_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69262996G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262996G>A	Exception_encountered						p.R6C			Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	194	-			38					Q13851	Missense_Mutation	SNP	ENST00000336440.3	37	c.16C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141350	0.09083	.	.	ENSG00000185650	ENST00000408913	.	.	.	2.32	-1.86	0.07760	.	.	.	.	.	T	0.38054	0.1026	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43925	-0.9361	5	0.87932	D	0	.	5.977	0.19385	0.4659:0.0:0.5341:0.0	.	.	.	.	C	6	.	ENSP00000386220:R6C	R	-	1	0	ZFP36L1	68332749	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.467000	0.06664	-0.362000	0.08113	-0.459000	0.05422	CGC		0.592	ZFP36L1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413228.1			22	59	0	0	0	1	0	22	59				
ZBTB37	84614	broad.mit.edu	37	1	173839605	173839605	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:173839605A>G	ENST00000367701.5	+	2	433	c.242A>G	c.(241-243)gAa>gGa	p.E81G	ZBTB37_ENST00000367704.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E81G|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACTGTTTTTGAACAGCTCCTT	0.473																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(241-243)gAa>gGa		zinc finger and BTB domain containing 37							89.0	89.0	89.0					1																	173839605		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839605A>G	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.242A>G	1.37:g.173839605A>G	ENSP00000356674:p.Glu81Gly					ZBTB37_ENST00000427304.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E81G|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E81G	p.E81G			Q5TC79	ZBT37_HUMAN			3	641	+			81			BTB.		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.242A>G	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260762	0.80246	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	L	0.58428	1.81	0.80722	D	1	D;D	0.69078	0.997;0.986	D;D	0.79108	0.992;0.951	T	0.67821	-0.5571	10	0.19147	T	0.46	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	81;81	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	G	81	ENSP00000356677:E81G;ENSP00000415293:E81G;ENSP00000409408:E81G;ENSP00000356675:E81G;ENSP00000356674:E81G	ENSP00000356674:E81G	E	+	2	0	ZBTB37	172106228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.234000	0.73211	0.460000	0.39030	GAA		0.473	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		5	78	0	0	0	1	0	5	78				
OR8D2	283160	broad.mit.edu	37	11	124189434	124189434	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:124189434G>A	ENST00000357438.2	-	1	750	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGAGAAAATGAAAGCATAAG	0.448																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(658-660)ttC>ttT		olfactory receptor, family 8, subfamily D, member 2							86.0	90.0	89.0					11																	124189434		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189434G>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.660C>T	11.37:g.124189434G>A							p.F220F	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	750	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220					B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.660C>T	CCDS31707.1																																																																																				0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		5	89	0	0	0	1	0	5	89				
AHNAK2	113146	broad.mit.edu	37	14	105417703	105417703	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:105417703A>C	ENST00000333244.5	-	7	4204	c.4085T>G	c.(4084-4086)aTg>aGg	p.M1362R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1362						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGAGGCTCATGTCGGCCTC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4084-4086)aTg>aGg		AHNAK nucleoprotein 2							111.0	84.0	94.0					14																	105417703		1847	3114	4961	SO:0001583	missense	113146					nucleus		g.chr14:105417703A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4085T>G	14.37:g.105417703A>C	ENSP00000353114:p.Met1362Arg					AHNAK2_ENST00000557457.1_Intron	p.M1362R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4204	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1362					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4085T>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	10.64	1.406190	0.25378	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	3.69	2.53	0.30540	.	.	.	.	.	T	0.00998	0.0033	L	0.46157	1.445	0.09310	N	1	B	0.23490	0.086	B	0.25987	0.065	T	0.45659	-0.9246	9	0.24483	T	0.36	.	8.7009	0.34325	0.9049:0.0:0.0951:0.0	.	1362	Q8IVF2	AHNK2_HUMAN	R	1362	ENSP00000353114:M1362R	ENSP00000353114:M1362R	M	-	2	0	AHNAK2	104488748	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.385000	0.20685	0.433000	0.26313	0.397000	0.26171	ATG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		29	172	0	0	0	1	0	29	172				
TFIP11	24144	broad.mit.edu	37	22	26895271	26895271	+	Silent	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:26895271G>T	ENST00000407690.1	-	9	1411	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.V376V|TFIP11_ENST00000405938.1_Silent_p.V376V|TFIP11_ENST00000407431.1_Silent_p.V376V	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	376					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCATCTCCAGGACCTTGCTGA	0.617																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1126-1128)gtC>gtA		tuftelin interacting protein 11							64.0	53.0	57.0					22																	26895271		2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26895271G>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1128C>A	22.37:g.26895271G>T						TFIP11_ENST00000407431.1_Silent_p.V376V|TFIP11_ENST00000407148.1_Silent_p.V376V|TFIP11_ENST00000405938.1_Silent_p.V376V	p.V376V	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			9	1411	-			376					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.1128C>A	CCDS13838.1																																																																																				0.617	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		39	52	1	0	3.33393e-15	1	4.03173e-15	39	52				
TGM2	7052	broad.mit.edu	37	20	36767845	36767845	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:36767845C>T	ENST00000361475.2	-	9	1484	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	TGM2_ENST00000536701.1_Silent_p.E356E|TGM2_ENST00000536724.1_Silent_p.E377E	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	437					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGGTGATATCCTCCCGCTCGT	0.547																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1309-1311)gaG>gaA		transglutaminase 2	L-Glutamine(DB00130)						112.0	86.0	95.0					20																	36767845		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36767845C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1311G>A	20.37:g.36767845C>T						TGM2_ENST00000536701.1_Silent_p.E356E|TGM2_ENST00000536724.1_Silent_p.E377E	p.E437E	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			9	1484	-		Myeloproliferative disorder(115;0.00878)	437					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.1311G>A	CCDS13302.1																																																																																				0.547	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		4	45	0	0	0	1	0	4	45				
MAP4K2	5871	broad.mit.edu	37	11	64557716	64557716	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:64557716T>A	ENST00000294066.2	-	29	2283	c.2192A>T	c.(2191-2193)gAg>gTg	p.E731V	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E723V	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	731	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGCCGTGGGCTCGCCCTGCAT	0.622																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2191-2193)gAg>gTg		mitogen-activated protein kinase kinase kinase kinase 2							130.0	115.0	120.0					11																	64557716		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64557716T>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2192A>T	11.37:g.64557716T>A	ENSP00000294066:p.Glu731Val					MAP4K2_ENST00000377350.3_Missense_Mutation_p.E723V	p.E731V	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			29	2283	-			731			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.2192A>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771381	0.49680	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05382	3.45;3.45	5.28	4.09	0.47781	Citron-like (3);	0.354917	0.28077	N	0.016691	T	0.05593	0.0147	L	0.29908	0.895	0.29053	N	0.884403	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.09335	-1.0679	10	0.54805	T	0.06	.	9.8062	0.40795	0.0:0.0:0.1853:0.8147	.	723;731	Q86VU3;Q12851	.;M4K2_HUMAN	V	731;723	ENSP00000294066:E731V;ENSP00000366567:E723V	ENSP00000294066:E731V	E	-	2	0	MAP4K2	64314292	0.001000	0.12720	0.998000	0.56505	0.946000	0.59487	0.417000	0.21214	2.019000	0.59389	0.454000	0.30748	GAG		0.622	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		6	42	0	0	0	1	0	6	42				
ZFY	7544	broad.mit.edu	37	Y	2829478	2829478	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrY:2829478A>T	ENST00000155093.3	+	3	746	c.425A>T	c.(424-426)cAt>cTt	p.H142L	ZFY_ENST00000449237.1_Missense_Mutation_p.H116L|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Missense_Mutation_p.H142L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GAATCCATGCATGTGTGTGAC	0.403																																						ENST00000155093.3																			0				biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(424-426)cAt>cTt		zinc finger protein, Y-linked																																				SO:0001583	missense	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2829478A>T	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.425A>T	Y.37:g.2829478A>T	ENSP00000155093:p.His142Leu					ZFY_ENST00000449237.1_Missense_Mutation_p.H116L|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Missense_Mutation_p.H142L	p.H142L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN			3	746	+			142					B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	c.425A>T	CCDS14774.1																																																																																				0.403	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		94	53	0	0	0	1	0	94	53				
RSBN1L	222194	broad.mit.edu	37	7	77379048	77379048	+	Silent	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:77379048C>G	ENST00000334955.8	+	3	1038	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	RSBN1L_ENST00000445288.1_Silent_p.L67L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	337						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAATAACCTCAAAAGGTTGG	0.408																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1009-1011)ctC>ctG		round spermatid basic protein 1-like							60.0	56.0	58.0					7																	77379048		1853	4090	5943	SO:0001819	synonymous_variant	222194					nucleus		g.chr7:77379048C>G	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1011C>G	7.37:g.77379048C>G						RSBN1L_ENST00000445288.1_Silent_p.L67L	p.L337L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	1038	+			337					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	c.1011C>G	CCDS43607.1																																																																																				0.408	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		6	51	0	0	0	1	0	6	51				
HECTD4	283450	broad.mit.edu	37	12	112681770	112681770	+	Silent	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:112681770G>T	ENST00000430131.2	-	29	4436	c.3291C>A	c.(3289-3291)gtC>gtA	p.V1097V	HECTD4_ENST00000377560.5_Silent_p.V1347V|HECTD4_ENST00000550722.1_Silent_p.V1373V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1097					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGGCTGCCTGACAGCGTGAG	0.388																																						ENST00000550722.1																			0											c.(4117-4119)gtC>gtA		HECT domain containing E3 ubiquitin protein ligase 4							78.0	78.0	78.0					12																	112681770		1907	4129	6036	SO:0001819	synonymous_variant	283450							g.chr12:112681770G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3291C>A	12.37:g.112681770G>T						HECTD4_ENST00000430131.2_Silent_p.V1097V|HECTD4_ENST00000377560.5_Silent_p.V1347V	p.V1373V	NM_001109662.3	NP_001103132.3					30	4514	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.4119C>A																																																																																					0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	45	1	0	0.00198382	1	0.00206317	7	45				
NOD1	10392	broad.mit.edu	37	7	30491286	30491286	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:30491286C>G	ENST00000222823.4	-	6	2272	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	583					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGGAAGTGATCCTTGTTCTTG	0.617																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1747-1749)Gat>Cat		nucleotide-binding oligomerization domain containing 1							53.0	60.0	58.0					7																	30491286		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491286C>G	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1747G>C	7.37:g.30491286C>G	ENSP00000222823:p.Asp583His						p.D583H	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2272	-			583					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1747G>C	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105439	0.56291	.	.	ENSG00000106100	ENST00000222823	T	0.70516	-0.49	5.28	5.28	0.74379	.	0.105080	0.64402	D	0.000006	T	0.68165	0.2971	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.71790	-0.4486	10	0.35671	T	0.21	.	17.8961	0.88888	0.0:1.0:0.0:0.0	.	583	Q9Y239	NOD1_HUMAN	H	583	ENSP00000222823:D583H	ENSP00000222823:D583H	D	-	1	0	NOD1	30457811	1.000000	0.71417	0.961000	0.40146	0.520000	0.34377	5.800000	0.69108	2.469000	0.83416	0.655000	0.94253	GAT		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			8	93	0	0	0	1	0	8	93				
C15orf39	56905	broad.mit.edu	37	15	75501072	75501072	+	Missense_Mutation	SNP	C	C	T	rs79122600		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:75501072C>T	ENST00000360639.2	+	2	3003	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	C15orf39_ENST00000394987.4_Missense_Mutation_p.R895C|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_Missense_Mutation_p.R895C			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	895						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCACCTCACGCATGCTGAA	0.672																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2683-2685)Cgc>Tgc		chromosome 15 open reading frame 39							25.0	23.0	24.0					15																	75501072		2197	4293	6490	SO:0001583	missense	56905							g.chr15:75501072C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2683C>T	15.37:g.75501072C>T	ENSP00000353854:p.Arg895Cys					C15orf39_ENST00000567617.1_Missense_Mutation_p.R895C|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895C	p.R895C			Q6ZRI6	CO039_HUMAN			2	3003	+			895					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2683C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370282	0.61624	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	.	0.114959	0.56097	D	0.000032	T	0.54711	0.1875	M	0.64997	1.995	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.57136	-0.7863	10	0.87932	D	0	-26.1361	17.5081	0.87752	0.0:1.0:0.0:0.0	.	457;895	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	C	895;895;293	ENSP00000353854:R895C;ENSP00000378438:R895C	ENSP00000353854:R895C	R	+	1	0	C15orf39	73288125	0.996000	0.38824	0.965000	0.40720	0.241000	0.25554	3.507000	0.53371	2.480000	0.83734	0.561000	0.74099	CGC		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		3	14	0	0	0	1	0	3	14				
GRIN2B	2904	broad.mit.edu	37	12	13906828	13906828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:13906828G>A	ENST00000609686.1	-	3	642	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	145					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGCCAAACTGGAAGAACATG	0.393																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(433-435)Cag>Tag		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						48.0	47.0	47.0					12																	13906828		2203	4300	6503	SO:0001587	stop_gained	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906828G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.433C>T	12.37:g.13906828G>A	ENSP00000477455:p.Gln145*						p.Q145*	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	642	-			145					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	ENST00000609686.1	37	c.433C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	38	7.153009	0.98099	.	.	ENSG00000150086	ENST00000279593	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8163	0.92077	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000279593:Q145X	Q	-	1	0	GRIN2B	13798095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.784000	0.99039	2.431000	0.82371	0.561000	0.74099	CAG		0.393	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	31	0	0	0	1	0	6	31				
SLCO1B1	10599	broad.mit.edu	37	12	21355450	21355450	+	Silent	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:21355450A>T	ENST00000256958.2	+	10	1257	c.1161A>T	c.(1159-1161)gcA>gcT	p.A387A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	387					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTATTTTTGCAAGTGGAATGT	0.299																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1159-1161)gcA>gcT		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						46.0	47.0	47.0					12																	21355450		2203	4297	6500	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355450A>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1161A>T	12.37:g.21355450A>T							p.A387A	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			10	1257	+			387					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1161A>T	CCDS8685.1																																																																																				0.299	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		6	20	0	0	0	1	0	6	20				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>T	17.37:g.7579699C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	13	35	1	0	4.3838e-07	1	4.88481e-07	13	35				
FAM214A	56204	broad.mit.edu	37	15	52902410	52902410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:52902410C>T	ENST00000261844.7	-	6	853	c.701G>A	c.(700-702)gGc>gAc	p.G234D	FAM214A_ENST00000546305.2_Missense_Mutation_p.G241D	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	234																	CTCATAAAGGCCAATATTAGT	0.388																																						ENST00000261844.7																			0											c.(700-702)gGc>gAc		family with sequence similarity 214, member A							171.0	149.0	156.0					15																	52902410		1910	4134	6044	SO:0001583	missense	56204							g.chr15:52902410C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.701G>A	15.37:g.52902410C>T	ENSP00000261844:p.Gly234Asp					FAM214A_ENST00000546305.2_Missense_Mutation_p.G241D	p.G234D	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	853	-			234					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.701G>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.934033	0.34096	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T;T	0.33654	1.52;1.4;1.51	5.18	4.24	0.50183	.	0.281420	0.39407	N	0.001372	T	0.32224	0.0822	L	0.40543	1.245	0.35263	D	0.779738	B;B	0.24368	0.102;0.061	B;B	0.27380	0.079;0.036	T	0.42015	-0.9476	10	0.45353	T	0.12	.	14.6212	0.68584	0.0:0.9263:0.0:0.0737	.	241;234	F5H8G0;Q32MH5	.;K1370_HUMAN	D	234;234;233;241	ENSP00000261844:G234D;ENSP00000382153:G234D;ENSP00000443598:G241D	ENSP00000261844:G234D	G	-	2	0	KIAA1370	50689702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.259000	0.51515	2.560000	0.86352	0.650000	0.86243	GGC		0.388	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	53	0	0	0	1	0	10	53				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																197331							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	36	0	0	0	1	0	4	36				
PSPC1	55269	broad.mit.edu	37	13	20277461	20277461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:20277461C>A	ENST00000338910.4	-	9	1585	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	476	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATAGGTGAACCCATCTGAGAT	0.463																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1426-1428)Ggt>Tgt		paraspeckle component 1							28.0	34.0	32.0					13																	20277461		1857	4101	5958	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20277461C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1426G>T	13.37:g.20277461C>A	ENSP00000343966:p.Gly476Cys						p.G476C	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	9	1585	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	476			Gly-rich.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1426G>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807157	0.70797	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.15603	2.41	5.4	5.4	0.78164	.	0.129836	0.51477	D	0.000094	T	0.33265	0.0857	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01844	-1.1262	10	0.38643	T	0.18	-21.2963	19.1702	0.93574	0.0:1.0:0.0:0.0	.	476	Q8WXF1	PSPC1_HUMAN	C	476;416	ENSP00000343966:G476C	ENSP00000343966:G476C	G	-	1	0	PSPC1	19175461	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.912000	0.69948	2.529000	0.85273	0.484000	0.47621	GGT		0.463	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			7	31	1	0	0.000442599	1	0.000469697	7	31				
BMP3	651	broad.mit.edu	37	4	81967329	81967329	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:81967329C>A	ENST00000282701.2	+	2	1074	c.754C>A	c.(754-756)Cca>Aca	p.P252T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	252					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.P252S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CATTTCTGAGCCAGAAAGTGT	0.483																																						ENST00000282701.2																			1	Substitution - Missense(1)	p.P252S(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(754-756)Cca>Aca		bone morphogenetic protein 3							94.0	94.0	94.0					4																	81967329		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967329C>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.754C>A	4.37:g.81967329C>A	ENSP00000282701:p.Pro252Thr						p.P252T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1074	+			252					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.754C>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	c	9.734	1.162978	0.21538	.	.	ENSG00000152785	ENST00000282701	D	0.82081	-1.57	5.08	3.36	0.38483	.	0.097095	0.64402	N	0.000001	D	0.86381	0.5919	M	0.82823	2.61	0.58432	D	0.999997	D	0.61697	0.99	P	0.50659	0.647	D	0.87894	0.2686	10	0.72032	D	0.01	.	10.6405	0.45590	0.1356:0.7917:0.0:0.0728	.	252	P12645	BMP3_HUMAN	T	252	ENSP00000282701:P252T	ENSP00000282701:P252T	P	+	1	0	BMP3	82186353	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	4.721000	0.61951	1.527000	0.49086	-0.121000	0.15023	CCA		0.483	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			22	73	1	0	1.55795e-14	1	1.86953e-14	22	73				
PITX1	5307	broad.mit.edu	37	5	134364688	134364688	+	Silent	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:134364688G>T	ENST00000265340.7	-	3	1142	c.726C>A	c.(724-726)ctC>ctA	p.L242L	PITX1_ENST00000506438.1_Silent_p.L242L	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	242	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TGATGTTGTTGAGGCCCGAGT	0.662																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(724-726)ctC>ctA		paired-like homeodomain 1							80.0	77.0	78.0					5																	134364688		2203	4299	6502	SO:0001819	synonymous_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364688G>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.726C>A	5.37:g.134364688G>T						PITX1_ENST00000506438.1_Silent_p.L242L	p.L242L	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1142	-			242			Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	c.726C>A	CCDS4182.1																																																																																				0.662	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			7	39	1	0	8.12818e-05	1	8.80553e-05	7	39				
ZFYVE9	9372	broad.mit.edu	37	1	52705057	52705057	+	Silent	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:52705057C>A	ENST00000371591.1	+	3	2099	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	ZFYVE9_ENST00000357206.2_Silent_p.I656I|ZFYVE9_ENST00000287727.3_Silent_p.I656I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	656					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGGCTGAGATCTCCACTAGAC	0.443																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(1966-1968)atC>atA		zinc finger, FYVE domain containing 9							113.0	109.0	111.0					1																	52705057		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52705057C>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1968C>A	1.37:g.52705057C>A						ZFYVE9_ENST00000371591.1_Silent_p.I656I|ZFYVE9_ENST00000361625.1_Silent_p.I656I|ZFYVE9_ENST00000357206.2_Silent_p.I656I	p.I656I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	2140	+			656					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.1968C>A	CCDS563.1																																																																																				0.443	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		29	87	1	0	1.16021e-09	1	1.34069e-09	29	87				
EPB41L4A	64097	broad.mit.edu	37	5	111576462	111576462	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:111576462A>T	ENST00000261486.5	-	10	1117	c.841T>A	c.(841-843)Tgc>Agc	p.C281S	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	281	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGTGCTTGCAAGCAGTTTTA	0.343																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(841-843)Tgc>Agc		erythrocyte membrane protein band 4.1 like 4A							73.0	69.0	70.0					5																	111576462		1813	4093	5906	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111576462A>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.841T>A	5.37:g.111576462A>T	ENSP00000261486:p.Cys281Ser					RP11-526F3.1_ENST00000504004.1_RNA	p.C281S	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	10	1117	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	281			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.841T>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711057	0.89112	.	.	ENSG00000129595	ENST00000261486	D	0.87650	-2.28	5.76	5.76	0.90799	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.70787	2.145	0.43141	D	0.994898	D	0.76494	0.999	D	0.74674	0.984	D	0.93246	0.6630	10	0.62326	D	0.03	.	15.0489	0.71850	1.0:0.0:0.0:0.0	.	281	Q9HCS5	E41LA_HUMAN	S	281	ENSP00000261486:C281S	ENSP00000261486:C281S	C	-	1	0	EPB41L4A	111604361	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.884000	0.75600	2.196000	0.70406	0.533000	0.62120	TGC		0.343	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			6	28	0	0	0	1	0	6	28				
TENM1	10178	broad.mit.edu	37	X	123657346	123657346	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:123657346C>G	ENST00000371130.3	-	17	2964	c.2901G>C	c.(2899-2901)caG>caC	p.Q967H	TENM1_ENST00000422452.2_Missense_Mutation_p.Q967H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	967					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATACAACTCTCTGCATGGTGA	0.483																																						ENST00000422452.2																			0											c.(2899-2901)caG>caC		teneurin transmembrane protein 1							187.0	157.0	167.0					X																	123657346		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123657346C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2901G>C	X.37:g.123657346C>G	ENSP00000360171:p.Gln967His					TENM1_ENST00000371130.3_Missense_Mutation_p.Q967H	p.Q967H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					17	2964	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2901G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022871	0.35701	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85702	-2.02;-1.99	5.79	3.1	0.35709	.	0.338873	0.29822	N	0.011109	D	0.83326	0.5230	L	0.46157	1.445	0.38219	D	0.940687	P;P;D	0.54047	0.944;0.944;0.964	P;P;P	0.51777	0.459;0.496;0.679	T	0.79517	-0.1771	10	0.32370	T	0.25	.	8.5654	0.33536	0.0:0.6148:0.0:0.3852	.	966;967;967	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	967	ENSP00000360171:Q967H;ENSP00000403954:Q967H	ENSP00000360171:Q967H	Q	-	3	2	ODZ1	123485027	0.887000	0.30362	1.000000	0.80357	0.257000	0.26127	0.011000	0.13264	0.235000	0.21160	-0.191000	0.12829	CAG		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		12	39	0	0	0	1	0	12	39				
CYP2D6	1565	broad.mit.edu	37	22	42523915	42523915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:42523915G>A	ENST00000360608.5	-	6	1028	c.914C>T	c.(913-915)gCc>gTc	p.A305V	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A254V|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A305V	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	305					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CACCATCCCGGCAGAGAACAG	0.607																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(913-915)gCc>gTc		cytochrome P450, family 2, subfamily D, polypeptide 6							101.0	88.0	93.0					22																	42523915		2196	4299	6495	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523915G>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.914C>T	22.37:g.42523915G>A	ENSP00000353820:p.Ala305Val					NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A305V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A254V	p.A305V	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			6	1028	-			305					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.914C>T	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771792	0.49680	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	D;D;T	0.89485	-2.52;-2.52;-1.27	4.45	2.17	0.27698	.	0.075160	0.56097	D	0.000038	D	0.95379	0.8500	H	0.97962	4.115	0.58432	D	0.999998	D;D	0.64830	0.994;0.976	P;P	0.62382	0.901;0.585	D	0.94761	0.7936	10	0.87932	D	0	.	9.036	0.36289	0.0888:0.1479:0.7633:0.0	.	254;305	Q6NXU8;Q6NWU0	.;.	V	305;305;251;254;254	ENSP00000353820:A305V;ENSP00000374620:A305V;ENSP00000351927:A254V	ENSP00000351927:A254V	A	-	2	0	CYP2D6	40853859	1.000000	0.71417	0.011000	0.14972	0.015000	0.08874	3.333000	0.52090	0.986000	0.38683	0.555000	0.69702	GCC		0.607	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			8	73	0	0	0	1	0	8	73				
SORCS1	114815	broad.mit.edu	37	10	108716281	108716281	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:108716281A>T	ENST00000263054.6	-	2	623	c.616T>A	c.(616-618)Tcg>Acg	p.S206T	SORCS1_ENST00000344440.6_Missense_Mutation_p.S206T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	206					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCAAAGCGAGCTCTCTGTG	0.423																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(616-618)Tcg>Acg		sortilin-related VPS10 domain containing receptor 1							145.0	133.0	137.0					10																	108716281		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108716281A>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.616T>A	10.37:g.108716281A>T	ENSP00000263054:p.Ser206Thr					SORCS1_ENST00000344440.6_Missense_Mutation_p.S206T	p.S206T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	2	623	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	206					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.616T>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293983	0.40594	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.49720	0.77;0.77	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.45135	0.1327	L	0.41961	1.31	0.40657	D	0.982097	P;P;P;P;P	0.38551	0.636;0.63;0.63;0.496;0.63	B;B;B;B;B	0.40534	0.178;0.332;0.332;0.178;0.332	T	0.36696	-0.9737	9	.	.	.	-10.9247	16.3695	0.83350	1.0:0.0:0.0:0.0	.	206;206;206;206;206	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	T	206	ENSP00000263054:S206T;ENSP00000345964:S206T	.	S	-	1	0	SORCS1	108706271	1.000000	0.71417	0.999000	0.59377	0.304000	0.27724	5.305000	0.65750	2.315000	0.78130	0.533000	0.62120	TCG		0.423	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	27	0	0	0	1	0	8	27				
ADAMTS18	170692	broad.mit.edu	37	16	77334208	77334208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:77334208A>G	ENST00000282849.5	-	17	3044	c.2626T>C	c.(2626-2628)Tat>Cat	p.Y876H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	876	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCCAGGTATAGGCAGGTCTT	0.468																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2626-2628)Tat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 18							144.0	120.0	129.0					16																	77334208		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77334208A>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2626T>C	16.37:g.77334208A>G	ENSP00000282849:p.Tyr876His						p.Y876H	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			17	3044	-			876			Spacer.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2626T>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	5.260	0.233401	0.09969	.	.	ENSG00000140873	ENST00000282849	T	0.63580	-0.05	5.84	1.26	0.21427	.	0.339489	0.32120	N	0.006560	T	0.44307	0.1287	N	0.20574	0.59	0.09310	N	0.999999	B;B	0.28178	0.202;0.029	B;B	0.33196	0.159;0.076	T	0.31916	-0.9926	10	0.34782	T	0.22	.	8.6251	0.33883	0.6033:0.0:0.3967:0.0	.	876;876	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	876	ENSP00000282849:Y876H	ENSP00000282849:Y876H	Y	-	1	0	ADAMTS18	75891709	0.995000	0.38212	0.001000	0.08648	0.005000	0.04900	2.909000	0.48758	0.036000	0.15547	-0.177000	0.13119	TAT		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	51	0	0	0	1	0	4	51				
NME8	51314	broad.mit.edu	37	7	37936551	37936551	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:37936551G>C	ENST00000199447.4	+	17	1996	c.1624G>C	c.(1624-1626)Gaa>Caa	p.E542Q	NME8_ENST00000440017.1_Missense_Mutation_p.E542Q|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	542	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AACAGACCCAGAAGAAGCAAA	0.453																																						ENST00000199447.4																			0											c.(1624-1626)Gaa>Caa		NME/NM23 family member 8							109.0	104.0	106.0					7																	37936551		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37936551G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1624G>C	7.37:g.37936551G>C	ENSP00000199447:p.Glu542Gln					NME8_ENST00000440017.1_Missense_Mutation_p.E542Q|EPDR1_ENST00000476620.1_Intron	p.E542Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			17	1996	+			542			NDK 3.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1624G>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088533	0.55968	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.55760	0.5;0.5	5.54	3.73	0.42828	.	0.473752	0.18700	N	0.133587	T	0.59649	0.2209	L	0.59912	1.85	0.25046	N	0.991166	D	0.54207	0.965	P	0.56127	0.792	T	0.50906	-0.8772	10	0.49607	T	0.09	-10.4393	8.8167	0.35000	0.2349:0.0:0.7651:0.0	.	542	Q8N427	TXND3_HUMAN	Q	542	ENSP00000199447:E542Q;ENSP00000397063:E542Q	ENSP00000199447:E542Q	E	+	1	0	TXNDC3	37903076	0.997000	0.39634	0.747000	0.31113	0.504000	0.33889	2.624000	0.46444	0.820000	0.34516	0.655000	0.94253	GAA		0.453	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		6	109	0	0	0	1	0	6	109				
HRNR	388697	broad.mit.edu	37	1	152191029	152191029	+	Missense_Mutation	SNP	G	G	A	rs537545646		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:152191029G>A	ENST00000368801.2	-	3	3151	c.3076C>T	c.(3076-3078)Cca>Tca	p.P1026S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1026					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTATATGGGCCATAGCTG	0.602																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(3076-3078)Cca>Tca		hornerin							153.0	171.0	165.0					1																	152191029		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191029G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3076C>T	1.37:g.152191029G>A	ENSP00000357791:p.Pro1026Ser					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.P1026S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3151	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1026					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.3076C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.943	0.175115	0.09391	.	.	ENSG00000197915	ENST00000368801	T	0.01495	4.83	2.88	1.89	0.25635	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.37865	-0.9687	9	0.08837	T	0.75	.	7.538	0.27721	0.0:0.2681:0.7319:0.0	.	1026	Q86YZ3	HORN_HUMAN	S	1026	ENSP00000357791:P1026S	ENSP00000357791:P1026S	P	-	1	0	HRNR	150457653	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.077000	0.14738	0.472000	0.27344	0.558000	0.71614	CCA		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		109	177	0	0	0	1	0	109	177				
GAK	2580	broad.mit.edu	37	4	853491	853491	+	Silent	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:853491T>A	ENST00000314167.4	-	24	3296	c.3186A>T	c.(3184-3186)ggA>ggT	p.G1062G	GAK_ENST00000511163.1_Silent_p.G983G|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1062					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCGGCTGACCTCCAGGAGAGA	0.617																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3184-3186)ggA>ggT		cyclin G associated kinase							45.0	52.0	49.0					4																	853491		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853491T>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3186A>T	4.37:g.853491T>A						GAK_ENST00000511163.1_Silent_p.G983G|GAK_ENST00000509566.1_5'UTR	p.G1062G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3296	-			1062					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3186A>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.663|1.663	-0.511053|-0.511053	0.04231|0.04231	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000511980|ENST00000510799	.|.	.|.	.|.	4.68|4.68	3.5|3.5	0.40072|0.40072	.|.	.|.	.|.	.|.	.|.	T|T	0.53400|0.53400	0.1794|0.1794	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	-8.0965|-8.0965	4.7895|4.7895	0.13241|0.13241	0.0:0.1012:0.1908:0.708|0.0:0.1012:0.1908:0.708	.|.	.|.	.|.	.|.	V|W	174|182	.|.	.|.	E|R	-|-	2|1	0|2	GAK|GAK	843491|843491	0.986000|0.986000	0.35501|0.35501	0.660000|0.660000	0.29694|0.29694	0.125000|0.125000	0.20455|0.20455	0.296000|0.296000	0.19083|0.19083	0.647000|0.647000	0.30713|0.30713	0.418000|0.418000	0.28097|0.28097	GAG|AGG		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		7	52	0	0	0	1	0	7	52				
PLPPR4	9890	broad.mit.edu	37	1	99772531	99772531	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:99772531A>C	ENST00000370185.3	+	7	2754	c.2257A>C	c.(2257-2259)Aaa>Caa	p.K753Q	LPPR4_ENST00000457765.1_Missense_Mutation_p.K695Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.K595Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		753					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATCTTCTACAAAGGAACCTC	0.458																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2257-2259)Aaa>Caa									73.0	73.0	73.0					1																	99772531		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772531A>C																												ENST00000370185.3:c.2257A>C	1.37:g.99772531A>C	ENSP00000359204:p.Lys753Gln					LPPR4_ENST00000370184.1_Missense_Mutation_p.K595Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.K695Q	p.K753Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2754	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	753					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2257A>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360628	0.82353	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.31247	2.04;1.97;1.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.83275	0.996;0.879	T	0.26883	-1.0090	9	.	.	.	-33.4441	16.2806	0.82678	1.0:0.0:0.0:0.0	.	695;753	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	753;695;595	ENSP00000359204:K753Q;ENSP00000394913:K695Q;ENSP00000359203:K595Q	.	K	+	1	0	RP4-788L13.1	99545119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.926000	0.92839	2.248000	0.74166	0.533000	0.62120	AAA		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			12	66	0	0	0	1	0	12	66				
ERN1	2081	broad.mit.edu	37	17	62122834	62122834	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:62122834G>A	ENST00000433197.3	-	20	2633	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTATTCTGTCGCTCACGTCCT	0.542																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2536-2538)agC>agT		endoplasmic reticulum to nucleus signaling 1							96.0	98.0	97.0					17																	62122834		2112	4254	6366	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62122834G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2538C>T	17.37:g.62122834G>A							p.S846S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			20	2633	-			846			KEN.			Silent	SNP	ENST00000433197.3	37	c.2538C>T	CCDS45762.1																																																																																				0.542	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		11	47	0	0	0	1	0	11	47				
KCNJ16	3773	broad.mit.edu	37	17	68129080	68129080	+	Silent	SNP	T	T	C	rs371524728		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:68129080T>C	ENST00000589377.1	+	2	1015	c.852T>C	c.(850-852)taT>taC	p.Y284Y	KCNJ16_ENST00000392670.1_Silent_p.Y284Y|KCNJ16_ENST00000283936.1_Silent_p.Y284Y|KCNJ16_ENST00000586462.1_Silent_p.Y323Y|KCNJ16_ENST00000585558.1_Silent_p.Y319Y|KCNJ16_ENST00000392671.1_Silent_p.Y284Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	284					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CATTTATCTATACTGGTGATT	0.418																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(955-957)taT>taC		potassium inwardly-rectifying channel, subfamily J, member 16		T	,,	0,4406		0,0,2203	116.0	118.0	117.0		852,852,852	-6.7	0.4	17		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	284/419,284/419,284/419	68129080	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129080T>C	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.852T>C	17.37:g.68129080T>C						KCNJ16_ENST00000589377.1_Silent_p.Y284Y|KCNJ16_ENST00000392671.1_Silent_p.Y284Y|KCNJ16_ENST00000392670.1_Silent_p.Y284Y|KCNJ16_ENST00000283936.1_Silent_p.Y284Y|KCNJ16_ENST00000586462.1_Silent_p.Y323Y	p.Y319Y			Q9NPI9	IRK16_HUMAN			4	1345	+	Breast(10;2.96e-09)		284						Silent	SNP	ENST00000589377.1	37	c.957T>C	CCDS11687.1																																																																																				0.418	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		48	66	0	0	0	1	0	48	66				
ADCY2	108	broad.mit.edu	37	5	7804770	7804770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:7804770G>T	ENST00000338316.4	+	22	2937	c.2848G>T	c.(2848-2850)Ggt>Tgt	p.G950C	ADCY2_ENST00000537121.1_Missense_Mutation_p.G770C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	950					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCAGCAACAGGTCTGAGCGC	0.527																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2848-2850)Ggt>Tgt		adenylate cyclase 2 (brain)							81.0	74.0	76.0					5																	7804770		2203	4300	6503	SO:0001583	missense	108				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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7804770G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2848G>T	5.37:g.7804770G>T	ENSP00000342952:p.Gly950Cys					ADCY2_ENST00000537121.1_Missense_Mutation_p.G770C	p.G950C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			22	2937	+			950					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2848G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658956	0.88154	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.46451	0.87;0.87	4.72	4.72	0.59763	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89507	0.3768	10	0.87932	D	0	.	18.0341	0.89293	0.0:0.0:1.0:0.0	.	770;950	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	950;103;783;770	ENSP00000342952:G950C;ENSP00000444803:G770C	ENSP00000342952:G950C	G	+	1	0	ADCY2	7857770	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.451000	0.97610	2.336000	0.79503	0.491000	0.48974	GGT		0.527	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		4	32	1	0	0.000602214	1	0.000634767	4	32				
PCYOX1L	78991	broad.mit.edu	37	5	148743614	148743614	+	Missense_Mutation	SNP	G	G	A	rs35456382	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:148743614G>A	ENST00000274569.4	+	3	373	c.311G>A	c.(310-312)cGc>cAc	p.R104H	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R14H	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	104					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCACCGGCGCGAGGTGGTG	0.602													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16785	0.0		0.0	False		,,,				2504	0.0				Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(40-42)cGc>cAc		prenylcysteine oxidase 1 like		G	HIS/ARG	18,4388	26.2+/-53.5	0,18,2185	73.0	77.0	76.0		311	5.7	1.0	5	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCYOX1L	NM_024028.3	29	0,19,6484	AA,AG,GG		0.0116,0.4085,0.1461	possibly-damaging	104/495	148743614	19,12987	2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743614G>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.311G>A	5.37:g.148743614G>A	ENSP00000274569:p.Arg104His					PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R104H	p.R14H			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	620	+			104					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.41G>A	CCDS4296.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	22.7	4.322212	0.81580	0.004085	1.16E-4	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14766	2.91;2.48	5.74	5.74	0.90152	.	0.119662	0.56097	D	0.000029	T	0.10508	0.0257	L	0.56769	1.78	0.43953	D	0.996629	P;B	0.47762	0.9;0.172	B;B	0.37650	0.255;0.023	T	0.01105	-1.1450	10	0.46703	T	0.11	-8.4993	13.1665	0.59573	0.073:0.0:0.927:0.0	rs35456382	14;104	E7EVZ5;Q8NBM8	.;PCYXL_HUMAN	H	104;14	ENSP00000274569:R104H;ENSP00000428512:R14H	ENSP00000274569:R104H	R	+	2	0	PCYOX1L	148723807	1.000000	0.71417	0.973000	0.42090	0.914000	0.54420	5.472000	0.66768	2.721000	0.93114	0.491000	0.48974	CGC		0.602	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		10	43	0	0	0	1	0	10	43				
ENPP1	5167	broad.mit.edu	37	6	132194150	132194150	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr6:132194150C>A	ENST00000360971.2	+	15	1545	c.1525C>A	c.(1525-1527)Ccc>Acc	p.P509T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	509	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAATTGAGCCCTTGACATT	0.433																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1525-1527)Ccc>Acc		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						224.0	220.0	221.0					6																	132194150		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132194150C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1525C>A	6.37:g.132194150C>A	ENSP00000354238:p.Pro509Thr						p.P509T	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	15	1545	+	Breast(56;0.0505)		509			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1525C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801248	0.50315	.	.	ENSG00000197594	ENST00000360971	T	0.75477	-0.94	5.21	4.34	0.51931	Alkaline-phosphatase-like, core domain (1);	0.187440	0.46758	D	0.000273	T	0.78698	0.4324	M	0.86028	2.79	0.33549	D	0.595878	P;P	0.39044	0.607;0.656	P;P	0.51945	0.471;0.685	T	0.80398	-0.1399	10	0.44086	T	0.13	-5.6679	13.8133	0.63276	0.0:0.9257:0.0:0.0743	.	509;139	P22413;Q7Z3P5	ENPP1_HUMAN;.	T	509	ENSP00000354238:P509T	ENSP00000354238:P509T	P	+	1	0	ENPP1	132235843	0.430000	0.25538	0.992000	0.48379	0.991000	0.79684	1.263000	0.33004	1.329000	0.45376	0.591000	0.81541	CCC		0.433	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			18	162	1	0	1.99824e-07	1	2.24262e-07	18	162				
SMCHD1	23347	broad.mit.edu	37	18	2760723	2760723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr18:2760723C>G	ENST00000320876.6	+	35	4758	c.4420C>G	c.(4420-4422)Ctc>Gtc	p.L1474V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1474V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1474					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACAAATATTCTCAACAGTGA	0.294																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4420-4422)Ctc>Gtc		structural maintenance of chromosomes flexible hinge domain containing 1							75.0	73.0	73.0					18																	2760723		1815	4069	5884	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2760723C>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4420C>G	18.37:g.2760723C>G	ENSP00000326603:p.Leu1474Val					SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1474V|RP11-703M24.5_ENST00000583546.1_RNA	p.L1474V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			35	4758	+			1474					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4420C>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359628	0.61403	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.35605	1.3;1.31	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.56769	1.78	0.39057	D	0.960458	D	0.63880	0.993	D	0.70016	0.967	T	0.55147	-0.8186	10	0.36615	T	0.2	-11.4877	18.9006	0.92440	0.0:1.0:0.0:0.0	.	1474	A6NHR9	SMHD1_HUMAN	V	1474	ENSP00000326603:L1474V;ENSP00000261598:L1474V	ENSP00000261598:L1474V	L	+	1	0	SMCHD1	2750723	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.039000	0.57325	2.551000	0.86045	0.655000	0.94253	CTC		0.294	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	33	0	0	0	1	0	5	33				
ZCCHC11	23318	broad.mit.edu	37	1	52901118	52901118	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:52901118G>A	ENST00000371544.3	-	27	4441	c.4179C>T	c.(4177-4179)aaC>aaT	p.N1393N	ZCCHC11_ENST00000257177.4_Silent_p.N1394N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1393					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATTTACAAGGTTGCGGACCA	0.438																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4177-4179)aaC>aaT		zinc finger, CCHC domain containing 11							103.0	88.0	93.0					1																	52901118		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52901118G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4179C>T	1.37:g.52901118G>A						ZCCHC11_ENST00000257177.4_Silent_p.N1394N	p.N1393N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			27	4441	-			1393					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.4179C>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848410	0.17034	.	.	ENSG00000134744	ENST00000474453	.	.	.	5.1	0.8	0.18672	.	.	.	.	.	T	0.55513	0.1925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44997	-0.9291	4	.	.	.	.	8.7024	0.34334	0.3281:0.0:0.6719:0.0	.	.	.	.	S	239	.	.	P	-	1	0	ZCCHC11	52673706	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	1.798000	0.38814	-0.108000	0.12066	0.467000	0.42956	CCT		0.438	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		5	35	0	0	0	1	0	5	35				
ADRA1A	148	broad.mit.edu	37	8	26627799	26627799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:26627799C>T	ENST00000380573.3	-	3	2291	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Splice_Site_p.R423Q|ADRA1A_ENST00000380582.3_Splice_Site_p.R423Q|ADRA1A_ENST00000354550.4_Splice_Site_p.R423Q|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423Q|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Splice_Site_p.R423Q			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0	Poly-Arg.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	ACTTCTCACCCGGGCTGTGGT	0.507																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1267-1269)cGg>cAg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						124.0	125.0	125.0					8																	26627799		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627799C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1268G>A	8.37:g.26627799C>T	ENSP00000369947:p.Arg423Gln					ADRA1A_ENST00000380586.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380582.3_Splice_Site_p.R423_splice|ADRA1A_ENST00000354550.4_Splice_Site_p.R423_splice|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423Q	p.R423Q			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2291	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	423					Q9NPY0	Missense_Mutation	SNP	ENST00000380573.3	37	c.1268G>A	CCDS6054.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816105	0.50527	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62232	2.41;0.08;0.04;0.08;0.1;0.1	5.63	5.63	0.86233	.	0.444361	0.20030	N	0.100736	T	0.50240	0.1604	L	0.48362	1.52	0.80722	D	1	B;P;P;P	0.51791	0.071;0.948;0.948;0.913	B;B;B;B	0.36959	0.002;0.237;0.237;0.161	T	0.51560	-0.8690	10	0.33940	T	0.23	.	11.0932	0.48128	0.0:0.8822:0.0:0.1178	.	423;423;423;423	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	Q	423	ENSP00000369960:R423Q;ENSP00000369956:R423Q;ENSP00000430793:R423Q;ENSP00000346557:R423Q;ENSP00000276393:R423Q;ENSP00000369947:R423Q	ENSP00000276393:R423Q	R	-	2	0	ADRA1A	26683716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.035000	0.49759	2.651000	0.90000	0.655000	0.94253	CGG		0.507	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376208.1	NM_033303		39	54	0	0	0	1	0	39	54				
OR2M5	127059	broad.mit.edu	37	1	248309152	248309152	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:248309152C>G	ENST00000366476.1	+	1	703	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R235C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGAGGGTCGTCGCAAAGCTTT	0.473																																						ENST00000366476.1																			1	Substitution - Missense(1)	p.R235C(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(703-705)Cgc>Ggc		olfactory receptor, family 2, subfamily M, member 5							258.0	243.0	248.0					1																	248309152		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309152C>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.703C>G	1.37:g.248309152C>G	ENSP00000355432:p.Arg235Gly						p.R235G	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	703	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		235						Missense_Mutation	SNP	ENST00000366476.1	37	c.703C>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	9.614	1.132008	0.21041	.	.	ENSG00000162727	ENST00000366476	T	0.00145	8.67	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	U	0.665935	T	0.00271	0.0008	M	0.61703	1.905	0.09310	N	1	B	0.26547	0.152	B	0.37650	0.255	T	0.50136	-0.8863	10	0.72032	D	0.01	.	10.7569	0.46243	0.1912:0.8088:0.0:0.0	.	235	A3KFT3	OR2M5_HUMAN	G	235	ENSP00000355432:R235G	ENSP00000355432:R235G	R	+	1	0	OR2M5	246375775	0.000000	0.05858	0.009000	0.14445	0.766000	0.43426	-1.438000	0.02416	1.528000	0.49103	0.492000	0.49549	CGC		0.473	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		88	171	0	0	0	1	0	88	171				
NAP1L3	4675	broad.mit.edu	37	X	92927520	92927520	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:92927520C>A	ENST00000373079.3	-	1	1047	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.D255Y	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	262					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TGTTCTTTATCATCTGCCTTT	0.443																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(784-786)Gat>Tat		nucleosome assembly protein 1-like 3							137.0	128.0	131.0					X																	92927520		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927520C>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.784G>T	X.37:g.92927520C>A	ENSP00000362171:p.Asp262Tyr					NAP1L3_ENST00000475430.1_5'UTR	p.D262Y	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1047	-			262					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.784G>T	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	1.766	-0.485480	0.04352	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.29142	1.58	3.2	-1.86	0.07760	.	1.371350	0.05448	N	0.548853	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18366	-1.0339	10	0.02654	T	1	.	1.0836	0.01647	0.1569:0.3802:0.1521:0.3108	.	262	Q99457	NP1L3_HUMAN	Y	262;255	ENSP00000362171:D262Y	ENSP00000362171:D262Y	D	-	1	0	NAP1L3	92814176	0.001000	0.12720	0.001000	0.08648	0.585000	0.36419	-0.486000	0.06513	-0.670000	0.05282	0.529000	0.55759	GAT		0.443	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		9	50	1	0	2.17888e-05	1	2.3937e-05	9	50				
CPEB2	132864	broad.mit.edu	37	4	15063828	15063828	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:15063828A>G	ENST00000507071.1	+	10	1573	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	CPEB2_ENST00000538197.1_Missense_Mutation_p.I941V|CPEB2_ENST00000442003.2_Missense_Mutation_p.I914V|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I504V|CPEB2_ENST00000345451.3_Missense_Mutation_p.I466V|CPEB2_ENST00000382395.3_Missense_Mutation_p.I474V|CPEB2_ENST00000541112.1_Missense_Mutation_p.I933V|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I469V			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	496	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GCAGAGCTATATTGCTGCCAT	0.418																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2821-2823)Att>Gtt		cytoplasmic polyadenylation element binding protein 2							205.0	198.0	200.0					4																	15063828		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15063828A>G	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1486A>G	4.37:g.15063828A>G	ENSP00000424084:p.Ile496Val					CPEB2_ENST00000345451.3_Missense_Mutation_p.I466V|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I504V|CPEB2_ENST00000541112.1_Missense_Mutation_p.I933V|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I469V|CPEB2_ENST00000507071.1_Missense_Mutation_p.I496V|CPEB2_ENST00000382395.3_Missense_Mutation_p.I474V|CPEB2_ENST00000442003.2_Missense_Mutation_p.I914V	p.I941V	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			11	2821	+			496					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2821A>G		.	.	.	.	.	.	.	.	.	.	A	22.5	4.292033	0.80914	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	N	0.12569	0.235	0.80722	D	1	P;D;D;P;D;P	0.69078	0.826;0.981;0.996;0.895;0.997;0.885	P;D;D;P;D;P	0.77557	0.811;0.976;0.934;0.856;0.99;0.801	T	0.22034	-1.0228	10	0.52906	T	0.07	-15.0224	14.8666	0.70422	1.0:0.0:0.0:0.0	.	469;474;914;941;466;496	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	V	941;933;914;496;466;474;469;504;483;149	ENSP00000443985:I941V;ENSP00000437884:I933V;ENSP00000414270:I914V;ENSP00000424084:I496V;ENSP00000334058:I466V;ENSP00000371832:I474V;ENSP00000371838:I469V;ENSP00000259997:I504V;ENSP00000423890:I149V	ENSP00000259997:I504V	I	+	1	0	CPEB2	14672926	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.339000	0.96797	1.913000	0.55393	0.533000	0.62120	ATT		0.418	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		17	133	0	0	0	1	0	17	133				
LINC00969	440993	broad.mit.edu	37	3	195400822	195400822	+	lincRNA	SNP	G	G	A	rs56170658		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418									long intergenic non-protein coding RNA 969																		GTCTGGTCAGGCATGTGCCCT	0.572																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400822G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400822G>A														0	1418	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	38	0	0	0	1	0	4	38				
SEC24D	9871	broad.mit.edu	37	4	119754819	119754819	+	Silent	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:119754819C>G	ENST00000280551.6	-	2	271	c.33G>C	c.(31-33)ccG>ccC	p.P11P	SEC24D_ENST00000379735.5_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(31-33)ccG>ccC		SEC24 family member D							159.0	144.0	149.0					4																	119754819		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119754819C>G	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.33G>C	4.37:g.119754819C>G						SEC24D_ENST00000280551.6_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR	p.P11P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			2	304	-			11			Pro-rich.		Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.33G>C	CCDS3710.1																																																																																				0.433	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			8	59	0	0	0	1	0	8	59				
ITSN2	50618	broad.mit.edu	37	2	24516638	24516638	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:24516638G>C	ENST00000355123.4	-	15	2085	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	ITSN2_ENST00000361999.3_Missense_Mutation_p.Q548E|ITSN2_ENST00000406921.3_Missense_Mutation_p.Q548E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	548					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTATTCTGATATTCCTTA	0.284																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1642-1644)Cag>Gag		intersectin 2							77.0	78.0	78.0					2																	24516638		2202	4293	6495	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24516638G>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1642C>G	2.37:g.24516638G>C	ENSP00000347244:p.Gln548Glu					ITSN2_ENST00000406921.3_Missense_Mutation_p.Q548E|ITSN2_ENST00000361999.3_Missense_Mutation_p.Q548E	p.Q548E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			15	2085	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		548					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1642C>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064612	0.55432	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.61980	0.06;0.15;0.06;0.5;1.0	5.75	5.75	0.90469	.	0.000000	0.33792	U	0.004545	T	0.79845	0.4516	M	0.71581	2.175	0.49130	D	0.999757	D;D;D;D	0.61697	0.99;0.99;0.99;0.969	D;D;D;D	0.72982	0.979;0.979;0.979;0.93	T	0.79928	-0.1596	10	0.72032	D	0.01	.	20.3202	0.98661	0.0:0.0:1.0:0.0	.	548;548;548;548	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	E	548;548;548;572;548;573	ENSP00000354561:Q548E;ENSP00000347244:Q548E;ENSP00000370250:Q548E;ENSP00000384499:Q548E;ENSP00000391224:Q573E	ENSP00000347244:Q548E	Q	-	1	0	ITSN2	24370142	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.988000	0.88194	2.890000	0.99128	0.585000	0.79938	CAG		0.284	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		5	33	0	0	0	1	0	5	33				
UAP1	6675	broad.mit.edu	37	1	162569111	162569111	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:162569111C>T	ENST00000367925.1	+	10	1559	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	UAP1_ENST00000367926.4_Silent_p.I492I|UAP1_ENST00000367924.1_Silent_p.I508I|UAP1_ENST00000271469.3_Silent_p.I509I			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	509					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCTAATCATCGATGAGAATG	0.343																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1525-1527)atC>atT		UDP-N-acteylglucosamine pyrophosphorylase 1							93.0	86.0	89.0					1																	162569111		2203	4300	6503	SO:0001819	synonymous_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162569111C>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1527C>T	1.37:g.162569111C>T						UAP1_ENST00000367925.1_Silent_p.I509I|UAP1_ENST00000367924.1_Silent_p.I508I|UAP1_ENST00000367926.4_Silent_p.I492I|UAP1_ENST00000486089.1_3'UTR	p.I509I			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		11	1829	+	all_hematologic(112;0.115)		509					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37	c.1527C>T																																																																																					0.343	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		3	34	0	0	0	1	0	3	34				
CNTN3	5067	broad.mit.edu	37	3	74418524	74418524	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:74418524A>G	ENST00000263665.6	-	7	789	c.762T>C	c.(760-762)aaT>aaC	p.N254N		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	254	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGGTATGGGACTAAGAAGAA	0.378																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.e7-1		contactin 3 (plasmacytoma associated)							41.0	41.0	41.0					3																	74418524		2203	4298	6501	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418524A>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.762-1T>C	3.37:g.74418524A>G							p.N254_splice	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	7	789	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	254			Ig-like C2-type 3.		B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.761_splice	CCDS33790.1																																																																																				0.378	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Silent	5	24	0	0	0	1	0	5	24				
OTUD7A	161725	broad.mit.edu	37	15	31947302	31947302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:31947302C>A	ENST00000307050.4	-	1	240	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	OTUD7A_ENST00000382902.1_Nonsense_Mutation_p.E50*	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	50					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCTTACCTTCCAGCAGGTCT	0.507																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(148-150)Gaa>Taa		OTU domain containing 7A							61.0	40.0	47.0					15																	31947302		2201	4300	6501	SO:0001587	stop_gained	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31947302C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.148G>T	15.37:g.31947302C>A	ENSP00000305926:p.Glu50*					OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E50*	p.E50*			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	1	240	-		all_lung(180;1.6e-09)	50					Q8IWK5	Nonsense_Mutation	SNP	ENST00000307050.4	37	c.148G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	38	6.983434	0.97983	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	.	.	.	3.54	3.54	0.40534	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.5735	0.56352	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305926:E50X	E	-	1	0	OTUD7A	29734594	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.004000	0.76317	1.499000	0.48617	0.555000	0.69702	GAA		0.507	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		12	9	1	0	0.000219431	1	0.000236078	12	9				
PARP6	56965	broad.mit.edu	37	15	72552938	72552938	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:72552938T>C	ENST00000569795.1	-	10	1324	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	PARP6_ENST00000260376.7_Missense_Mutation_p.I213V|PARP6_ENST00000287196.9_Missense_Mutation_p.I213V|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	213							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTACAGGAGATGGAACGGTTC	0.582																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(637-639)Atc>Gtc		poly (ADP-ribose) polymerase family, member 6							365.0	360.0	362.0					15																	72552938		1922	4126	6048	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72552938T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.637A>G	15.37:g.72552938T>C	ENSP00000456348:p.Ile213Val					PARP6_ENST00000260376.7_Missense_Mutation_p.I213V|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.I213V	p.I213V			Q2NL67	PARP6_HUMAN			10	1324	-			213					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.637A>G	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	4.415	0.076755	0.08485	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.91	3.77	0.43336	.	0.114133	0.64402	D	0.000017	T	0.15565	0.0375	N	0.08118	0	0.28040	N	0.933782	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13255	-1.0516	9	0.17832	T	0.49	-7.5455	6.4483	0.21890	0.0:0.2561:0.0:0.7439	.	213;213;165	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	V	213;213;213;78;78;213	.	ENSP00000260376:I213V	I	-	1	0	PARP6	70339992	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.123000	0.50453	1.840000	0.53500	0.467000	0.42956	ATC		0.582	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		135	231	0	0	0	1	0	135	231				
ZIC3	7547	broad.mit.edu	37	X	136649292	136649292	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:136649292C>A	ENST00000287538.5	+	1	992	c.442C>A	c.(442-444)Cat>Aat	p.H148N	ZIC3_ENST00000370606.3_Missense_Mutation_p.H148N|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	148					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAGCAGCCTGCATGCTCCAGC	0.701																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(442-444)Cat>Aat		Zic family member 3							10.0	11.0	11.0					X																	136649292		2151	4180	6331	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649292C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.442C>A	X.37:g.136649292C>A	ENSP00000287538:p.His148Asn					ZIC3_ENST00000370606.3_Missense_Mutation_p.H148N	p.H148N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	992	+	Acute lymphoblastic leukemia(192;0.000127)		148					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.442C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457388	0.43634	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.46063	0.88;0.88	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.60455	1.87	0.80722	D	1	D	0.60575	0.988	P	0.55455	0.776	T	0.51052	-0.8754	10	0.33940	T	0.23	.	14.8577	0.70351	0.0:1.0:0.0:0.0	.	148	O60481	ZIC3_HUMAN	N	148	ENSP00000287538:H148N;ENSP00000359638:H148N	ENSP00000287538:H148N	H	+	1	0	ZIC3	136476958	0.876000	0.30132	0.931000	0.37212	0.698000	0.40448	1.700000	0.37815	2.059000	0.61396	0.597000	0.82753	CAT		0.701	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	12	1	0	0.00909568	1	0.00927403	4	12				
C11orf70	85016	broad.mit.edu	37	11	101951964	101951964	+	Silent	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:101951964A>G	ENST00000434758.2	+	6	655	c.627A>G	c.(625-627)caA>caG	p.Q209Q	C11orf70_ENST00000526781.1_Silent_p.Q209Q	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	209										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAATCCTCAAACCAAGAAAA	0.284																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(625-627)caA>caG		chromosome 11 open reading frame 70							81.0	84.0	83.0					11																	101951964		2203	4293	6496	SO:0001819	synonymous_variant	85016							g.chr11:101951964A>G	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.627A>G	11.37:g.101951964A>G						C11orf70_ENST00000526781.1_Silent_p.Q209Q	p.Q209Q	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	6	655	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	209					E9PJU1	Silent	SNP	ENST00000434758.2	37	c.627A>G	CCDS8313.2																																																																																				0.284	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		8	26	0	0	0	1	0	8	26				
SNURF	8926	broad.mit.edu	37	15	25231988	25231988	+	Intron	SNP	C	C	G	rs59131251	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:25231988C>G	ENST00000551312.2	+	6	1184				SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551631.2_RNA|SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGAGATGACACgtgtatgtgc	0.478													C|||	586	0.117013	0.0091	0.196	5008	,	,		19533	0.1131		0.1322	False		,,,				2504	0.1953					ENST00000551631.2																			0																																																	SO:0001627	intron_variant	104472715							g.chr15:25231988C>G		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+4404C>G	15.37:g.25231988C>G						SNHG14_ENST00000551361.1_RNA		NR_001293.1						0	887	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.478	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		3	19	0	0	0	1	0	3	19				
TCTN3	26123	broad.mit.edu	37	10	97447374	97447374	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:97447374G>C	ENST00000371217.5	-	4	625	c.602C>G	c.(601-603)aCt>aGt	p.T201S	TCTN3_ENST00000371209.5_Missense_Mutation_p.T201S|TCTN3_ENST00000430368.2_Intron|TCTN3_ENST00000265993.9_Missense_Mutation_p.T219S			Q6NUS6	TECT3_HUMAN	tectonic family member 3	201					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TGGTGATTGAGTTTGGAATGT	0.443																																						ENST00000265993.8																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(601-603)aCt>aGt		tectonic family member 3							100.0	97.0	98.0					10																	97447374		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97447374G>C	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.602C>G	10.37:g.97447374G>C	ENSP00000360261:p.Thr201Ser					TCTN3_ENST00000371217.4_Missense_Mutation_p.T219S|TCTN3_ENST00000430368.1_Intron|TCTN3_ENST00000371209.5_Missense_Mutation_p.T201S	p.T201S	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	4	845	-		Colorectal(252;0.0815)	201					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.602C>G	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264880	0.23136	.	.	ENSG00000119977	ENST00000265993;ENST00000371217;ENST00000343162;ENST00000371209	D;D	0.82081	-1.57;-1.57	5.82	2.71	0.32032	Domain of unknown function DUF1619 (1);	1.467920	0.03825	N	0.268176	T	0.71451	0.3341	N	0.25890	0.77	0.09310	N	1	B;B;B	0.13145	0.007;0.005;0.002	B;B;B	0.15052	0.004;0.012;0.002	T	0.53718	-0.8399	10	0.09084	T	0.74	-21.6589	5.3367	0.15961	0.1807:0.0:0.6623:0.157	.	201;201;50	Q6NUS6-2;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	S	201;219;50;201	ENSP00000265993:T201S;ENSP00000360253:T201S	ENSP00000265993:T201S	T	-	2	0	TCTN3	97437364	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.639000	0.24690	0.274000	0.22072	0.655000	0.94253	ACT		0.443	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		13	28	0	0	0	1	0	13	28				
TUBA1A	7846	broad.mit.edu	37	12	49580524	49580524	+	Silent	SNP	G	G	A	rs139102191		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:49580524G>A	ENST00000295766.5	-	2	575	c.96C>T	c.(94-96)ccC>ccT	p.P32P	TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000546918.1_Silent_p.P32P|TUBA1A_ENST00000301071.7_Silent_p.P32P	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	32					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TCTGGCCATCGGGCTGGATGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15769	0.0		0.0	False		,,,				2504	0.0				Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(94-96)ccC>ccT		tubulin, alpha 1a		G		3,4403	4.2+/-10.8	0,3,2200	78.0	70.0	73.0		96	0.2	1.0	12	dbSNP_134	73	0,8594		0,0,4297	no	coding-synonymous	TUBA1A	NM_006009.2		0,3,6497	AA,AG,GG		0.0,0.0681,0.0231		32/452	49580524	3,12997	2203	4297	6500	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580524G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.96C>T	12.37:g.49580524G>A						TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000295766.5_Silent_p.P32P|TUBA1A_ENST00000546918.1_Silent_p.P32P	p.P32P	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			2	440	-			32					A8K0B8|G3V1U9|P04687|P05209	Silent	SNP	ENST00000295766.5	37	c.96C>T	CCDS58227.1																																																																																				0.602	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		12	60	0	0	0	1	0	12	60				
PCNT	5116	broad.mit.edu	37	21	47860937	47860937	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr21:47860937T>A	ENST00000359568.5	+	43	9670	c.9563T>A	c.(9562-9564)aTc>aAc	p.I3188N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3188	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAACGGAAAATCACATCTCGT	0.473																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9562-9564)aTc>aAc		pericentrin							103.0	92.0	96.0					21																	47860937		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47860937T>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9563T>A	21.37:g.47860937T>A	ENSP00000352572:p.Ile3188Asn					PCNT_ENST00000480896.1_3'UTR	p.I3188N	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			43	9670	+	Breast(49;0.112)		3188			Interaction with NEK2.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.9563T>A	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.28|13.28	2.189355|2.189355	0.38707|0.38707	.|.	.|.	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|.	0.01804|.	4.63|.	5.8|5.8	-7.26|-7.26	0.01466|0.01466	Pericentrin/AKAP-450 centrosomal targeting domain (1);|.	1.739130|.	0.03938|.	N|.	0.286481|.	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.33826|.	0.374;0.427|.	B;B|.	0.34536|.	0.116;0.185|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.72032|.	D|.	0.01|.	.|.	12.9959|12.9959	0.58646|0.58646	0.0:0.52:0.085:0.3951|0.0:0.52:0.085:0.3951	.|.	2991;3188|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	N|T	3188|169	ENSP00000352572:I3188N|.	ENSP00000352572:I3188N|.	I|S	+|+	2|1	0|0	PCNT|PCNT	46685365|46685365	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.485000|-0.485000	0.06520|0.06520	-1.783000|-1.783000	0.01274|0.01274	-1.139000|-1.139000	0.01908|0.01908	ATC|TCA		0.473	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	38	0	0	0	1	0	20	38				
FLNA	2316	broad.mit.edu	37	X	153588703	153588703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:153588703C>T	ENST00000369850.3	-	22	3696	c.3460G>A	c.(3460-3462)Gtg>Atg	p.V1154M	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.V1154M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1154M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1154M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1154					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGGAACCACGTGGGCCTTG	0.622											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3460-3462)Gtg>Atg		filamin A, alpha							59.0	69.0	65.0					X																	153588703		2142	4204	6346	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588703C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3460G>A	X.37:g.153588703C>T	ENSP00000358866:p.Val1154Met		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000344736.4_Missense_Mutation_p.V1154M|FLNA_ENST00000369850.3_Missense_Mutation_p.V1154M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1154M	p.V1154M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3708	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1154					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3460G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343003	0.24339	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	4.92	3.03	0.35002	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.429929	0.18677	N	0.134261	D	0.97204	0.9086	H	0.94734	3.575	0.24611	N	0.993729	P;P	0.42078	0.499;0.77	P;B	0.51170	0.661;0.358	D	0.93206	0.6596	10	0.87932	D	0	.	8.3262	0.32158	0.0:0.7027:0.0:0.2973	.	1154;1154	P21333-2;P21333	.;FLNA_HUMAN	M	1154;1127;1154;1154;1154	ENSP00000353467:V1154M;ENSP00000416926:V1154M;ENSP00000358866:V1154M;ENSP00000358863:V1154M	ENSP00000358863:V1154M	V	-	1	0	FLNA	153241897	0.001000	0.12720	0.397000	0.26308	0.144000	0.21451	-0.088000	0.11198	0.793000	0.33875	-0.402000	0.06365	GTG		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			12	36	0	0	0	1	0	12	36				
CD1B	910	broad.mit.edu	37	1	158299853	158299853	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:158299853C>T	ENST00000368168.3	-	3	503	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	132					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAGCTCCCCTCAGGAAGCTTA	0.488																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(394-396)ctG>ctA		CD1b molecule							173.0	176.0	175.0					1																	158299853		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299853C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.396G>A	1.37:g.158299853C>T							p.L132L	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	503	-	all_hematologic(112;0.0378)		132					Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.396G>A	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	2.803	-0.248749	0.05867	.	.	ENSG00000158485	ENST00000451207	.	.	.	4.16	0.934	0.19477	.	.	.	.	.	T	0.08358	0.0208	.	.	.	0.20403	N	0.999904	.	.	.	.	.	.	T	0.31641	-0.9936	4	.	.	.	-3.1614	2.1593	0.03820	0.2044:0.4842:0.1987:0.1128	.	.	.	.	K	100	.	.	E	-	1	0	CD1B	156566477	0.000000	0.05858	0.171000	0.22900	0.057000	0.15508	-0.057000	0.11768	0.492000	0.27815	-0.175000	0.13238	GAG		0.488	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		35	163	0	0	0	1	0	35	163				
RARG	5916	broad.mit.edu	37	12	53607444	53607444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:53607444G>A	ENST00000425354.2	-	8	1341	c.854C>T	c.(853-855)aCc>aTc	p.T285I	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.T263I|RARG_ENST00000327550.3_Missense_Mutation_p.T213I|RARG_ENST00000394426.1_Missense_Mutation_p.T285I|RARG_ENST00000338561.5_Missense_Mutation_p.T274I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	285	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGGTCATGGTGTCCTGCTC	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(853-855)aCc>aTc		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						106.0	94.0	98.0					12																	53607444		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607444G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.854C>T	12.37:g.53607444G>A	ENSP00000388510:p.Thr285Ile		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.T285I|RARG_ENST00000338561.5_Missense_Mutation_p.T274I|RARG_ENST00000327550.3_Missense_Mutation_p.T213I|RARG_ENST00000543726.1_Missense_Mutation_p.T263I	p.T285I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			8	1341	-			285			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.854C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093134	0.76756	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	4.86	4.86	0.63082	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	D	0.99282	1.0896	10	0.59425	D	0.04	.	17.1265	0.86715	0.0:0.0:1.0:0.0	.	322;263;285;274	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	I	285;285;47;213;274;263;322	ENSP00000388510:T285I;ENSP00000377947:T285I;ENSP00000332695:T213I;ENSP00000343698:T274I;ENSP00000444335:T263I	ENSP00000332695:T213I	T	-	2	0	RARG	51893711	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	9.808000	0.99193	2.409000	0.81822	0.313000	0.20887	ACC		0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		7	54	0	0	0	1	0	7	54				
RPGRIP1L	23322	broad.mit.edu	37	16	53639489	53639489	+	Missense_Mutation	SNP	C	C	T	rs201312119		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:53639489C>T	ENST00000379925.3	-	26	3789	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1201K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1213K|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E1167K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1247					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGGTCCTGCTCGTCCTCTGGA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19011	0.001		0.0	False		,,,				2504	0.0					ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(3499-3501)Gag>Aag		RPGRIP1-like		C	LYS/GLU,LYS/GLU	0,4396		0,0,2198	133.0	102.0	112.0		3499,3739	5.8	1.0	16		112	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RPGRIP1L	NM_001127897.1,NM_015272.2	56,56	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1167/1236,1247/1316	53639489	2,12994	2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53639489C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3739G>A	16.37:g.53639489C>T	ENSP00000369257:p.Glu1247Lys					RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E1247K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1201K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1213K	p.E1167K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			24	3592	-		all_cancers(37;0.0973)	1247					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.3499G>A	CCDS32447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.6	4.168338	0.78339	0.0	2.33E-4	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.74632	-0.86;-0.86	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.68317	2.08	0.80722	D	1	B;B;B;B	0.32543	0.258;0.258;0.258;0.375	B;B;B;B	0.28139	0.039;0.039;0.024;0.086	T	0.74685	-0.3582	10	0.59425	D	0.04	-7.2489	20.089	0.97809	0.0:1.0:0.0:0.0	.	1201;1201;1247;1167	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	K	1247;1167	ENSP00000369257:E1247K;ENSP00000262135:E1167K	ENSP00000262135:E1167K	E	-	1	0	RPGRIP1L	52196990	0.997000	0.39634	0.971000	0.41717	0.964000	0.63967	3.057000	0.49931	2.752000	0.94435	0.557000	0.71058	GAG		0.527	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		7	48	0	0	0	1	0	7	48				
RGL1	23179	broad.mit.edu	37	1	183891453	183891453	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:183891453T>C	ENST00000360851.3	+	17	2280	c.2102T>C	c.(2101-2103)gTc>gCc	p.V701A	RGL1_ENST00000539189.1_Missense_Mutation_p.V672A|RGL1_ENST00000304685.4_Missense_Mutation_p.V736A|RGL1_ENST00000536277.1_Missense_Mutation_p.V699A			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	701	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGTGCAGGTCATCTCGGAG	0.582											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2206-2208)gTc>gCc		ral guanine nucleotide dissociation stimulator-like 1							89.0	62.0	71.0					1																	183891453		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183891453T>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2102T>C	1.37:g.183891453T>C	ENSP00000354097:p.Val701Ala		OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1987	RGL1_ENST00000360851.3_Missense_Mutation_p.V701A|RGL1_ENST00000539189.1_Missense_Mutation_p.V672A|RGL1_ENST00000367531.1_Missense_Mutation_p.V736A|RGL1_ENST00000536277.1_Missense_Mutation_p.V699A	p.V736A	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			18	2668	+			701					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2207T>C		.	.	.	.	.	.	.	.	.	.	T	32	5.160083	0.94727	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.29	5.29	0.74685	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.58810	1.83	0.80722	D	1	D;P;P;P	0.56521	0.976;0.945;0.58;0.856	P;P;B;P	0.61533	0.89;0.551;0.396;0.551	T	0.65278	-0.6207	10	0.62326	D	0.03	.	15.1668	0.72833	0.0:0.0:0.0:1.0	.	672;699;701;736	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	A	736;736;699;701;672	ENSP00000303192:V736A;ENSP00000356501:V736A;ENSP00000438662:V699A;ENSP00000354097:V701A;ENSP00000437355:V672A	ENSP00000303192:V736A	V	+	2	0	RGL1	182158076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.875000	0.69660	2.112000	0.64535	0.533000	0.62120	GTC		0.582	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		8	27	0	0	0	1	0	8	27				
SORCS3	22986	broad.mit.edu	37	10	107005323	107005323	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:107005323C>A	ENST00000369701.3	+	21	3119	c.2892C>A	c.(2890-2892)agC>agA	p.S964R	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	964					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGACAGCAGCATTTCCTTCA	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2890-2892)agC>agA		sortilin-related VPS10 domain containing receptor 3							233.0	191.0	205.0					10																	107005323		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107005323C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2892C>A	10.37:g.107005323C>A	ENSP00000358715:p.Ser964Arg					SORCS3_ENST00000369699.4_3'UTR	p.S964R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	21	3119	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	964					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2892C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952877	0.73787	.	.	ENSG00000156395	ENST00000369701	T	0.44881	0.91	5.96	4.11	0.48088	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.80746	2.51	0.53005	D	0.999963	D	0.67145	0.996	D	0.66351	0.943	T	0.65257	-0.6212	9	.	.	.	.	12.5455	0.56197	0.0:0.8653:0.0:0.1347	.	964	Q9UPU3	SORC3_HUMAN	R	964	ENSP00000358715:S964R	.	S	+	3	2	SORCS3	106995313	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.434000	0.34958	0.845000	0.35118	0.650000	0.86243	AGC		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		16	115	1	0	3.45872e-05	1	3.77315e-05	16	115				
TRBC2	28638	broad.mit.edu	37	7	142499762	142499762	+	RNA	SNP	A	A	G	rs706	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:142499762A>G	ENST00000466254.1	+	0	405							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GTGCACAGGTACCTACATGCT	0.542													A|||	1424	0.284345	0.3147	0.3084	5008	,	,		19544	0.1885		0.4414	False		,,,				2504	0.1636					ENST00000466254.1																			0															A		1236,2944		188,860,1042	152.0	156.0	155.0			-7.8	0.0	7	dbSNP_36	155	3378,5042		704,1970,1536	no	intergenic				892,2830,2578	GG,GA,AA		40.1188,29.5694,36.619			142499762	4614,7986	2090	4210	6300			28638							g.chr7:142499762A>G	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499762A>G														0	405	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.542	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		4	135	0	0	0	1	0	4	135				
RARB	5915	broad.mit.edu	37	3	25622137	25622137	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:25622137A>T	ENST00000404969.1	+	5	731	c.731A>T	c.(730-732)aAa>aTa	p.K244I	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.K125I|RARB_ENST00000330688.4_Missense_Mutation_p.K237I|RARB_ENST00000458646.1_Missense_Mutation_p.K125I			P10826	RARB_HUMAN	retinoic acid receptor, beta	244	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGTTTGCTAAACGTCTGCCT	0.517																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(709-711)aAa>aTa		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						146.0	126.0	133.0					3																	25622137		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25622137A>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.731A>T	3.37:g.25622137A>T	ENSP00000385865:p.Lys244Ile					RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.K125I|RARB_ENST00000404969.1_Missense_Mutation_p.K244I|RARB_ENST00000458646.1_Missense_Mutation_p.K125I	p.K237I	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			5	1131	+			244			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.710A>T		.	.	.	.	.	.	.	.	.	.	A	23.1	4.380592	0.82792	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.2	4.05	0.47172	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	H	0.95504	3.68	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;1.0	D	0.84312	0.0511	10	0.87932	D	0	.	10.797	0.46466	0.925:0.0:0.075:0.0	.	244;237	P10826;F1D8S6	RARB_HUMAN;.	I	244;244;244;125;237;125	ENSP00000373282:K244I;ENSP00000385865:K244I;ENSP00000398840:K125I;ENSP00000332296:K237I;ENSP00000391391:K125I	ENSP00000332296:K237I	K	+	2	0	RARB	25597141	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	9.315000	0.96313	0.833000	0.34828	0.402000	0.26972	AAA		0.517	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	58	0	0	0	1	0	6	58				
RASGRP2	10235	broad.mit.edu	37	11	64507257	64507257	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:64507257T>A	ENST00000354024.3	-	7	799	c.547A>T	c.(547-549)Act>Tct	p.T183S	RASGRP2_ENST00000394432.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000377497.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000377494.1_Missense_Mutation_p.T183S	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	183	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGCCATGAGTCACGAAACTG	0.582																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(547-549)Act>Tct		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							93.0	78.0	83.0					11																	64507257		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507257T>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.547A>T	11.37:g.64507257T>A	ENSP00000338864:p.Thr183Ser					RASGRP2_ENST00000377497.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000394432.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000354024.3_Missense_Mutation_p.T183S	p.T183S			Q7LDG7	GRP2_HUMAN			6	1469	-			183			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.547A>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026035	0.75390	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.64	4.64	0.57946	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.123066	0.64402	D	0.000013	T	0.15998	0.0385	N	0.04880	-0.145	0.80722	D	1	B;B	0.25563	0.129;0.023	B;B	0.28638	0.092;0.022	T	0.06991	-1.0796	10	0.59425	D	0.04	-11.7405	8.7113	0.34385	0.0:0.0:0.1921:0.8079	.	183;183	Q7LDG7;A6NDC7	GRP2_HUMAN;.	S	183	ENSP00000366714:T183S;ENSP00000377953:T183S;ENSP00000366717:T183S;ENSP00000338864:T183S;ENSP00000399114:T183S	ENSP00000338864:T183S	T	-	1	0	RASGRP2	64263833	0.941000	0.31946	1.000000	0.80357	0.950000	0.60333	0.878000	0.28126	1.858000	0.53909	0.454000	0.30748	ACT		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		21	47	0	0	0	1	0	21	47				
CD200R1L	344807	broad.mit.edu	37	3	112545855	112545855	+	Missense_Mutation	SNP	C	C	T	rs142953807		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:112545855C>T	ENST00000398214.1	-	4	889	c.664G>A	c.(664-666)Gta>Ata	p.V222I	CD200R1L_ENST00000448932.1_Missense_Mutation_p.V201I|CD200R1L_ENST00000488794.1_Missense_Mutation_p.V201I	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	222						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTCAACTTTACGGACAGACTC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19602	0.001		0.0	False		,,,				2504	0.0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(601-603)Gta>Ata		CD200 receptor 1-like							66.0	69.0	68.0					3																	112545855		2186	4298	6484	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112545855C>T	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.664G>A	3.37:g.112545855C>T	ENSP00000381272:p.Val222Ile					CD200R1L_ENST00000398214.1_Missense_Mutation_p.V222I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V201I	p.V201I			Q6Q8B3	MO2R2_HUMAN			6	1190	-			222			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.601G>A	CCDS43131.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.020	-1.437426	0.01098	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.15487	2.43;2.42;2.42	3.7	-5.92	0.02261	.	0.620455	0.16519	N	0.210870	T	0.01940	0.0061	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	10	0.02654	T	1	.	1.0643	0.01608	0.4397:0.1033:0.1687:0.2883	.	222	Q6Q8B3	MO2R2_HUMAN	I	222;201;201	ENSP00000381272:V222I;ENSP00000418413:V201I;ENSP00000415132:V201I	ENSP00000381272:V222I	V	-	1	0	CD200R1L	114028545	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.029000	0.01430	-1.075000	0.03129	-0.294000	0.09567	GTA		0.448	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		9	77	0	0	0	1	0	9	77				
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(235-237)aaC>aaT		centrosomal protein 164kDa		C		1,4401	2.1+/-5.4	0,1,2200	121.0	108.0	112.0		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117222548C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.237C>T	11.37:g.117222548C>T							p.N79N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	5	384	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	79			Interaction with ATRIP.|WW.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.237C>T	CCDS31683.1																																																																																				0.478	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		10	53	0	0	0	1	0	10	53				
C12orf4	57102	broad.mit.edu	37	12	4609473	4609473	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:4609473G>C	ENST00000261250.3	-	11	1358	c.1271C>G	c.(1270-1272)tCa>tGa	p.S424*	C12orf4_ENST00000509318.2_5'Flank|C12orf4_ENST00000545746.1_Nonsense_Mutation_p.S424*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	424										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGGATTTCTGAGAGATTAGA	0.393																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(1270-1272)tCa>tGa		chromosome 12 open reading frame 4							88.0	82.0	84.0					12																	4609473		2203	4300	6503	SO:0001587	stop_gained	57102							g.chr12:4609473G>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1271C>G	12.37:g.4609473G>C	ENSP00000261250:p.Ser424*					C12orf4_ENST00000545746.1_Nonsense_Mutation_p.S424*	p.S424*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	11	1358	-			424					D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.1271C>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	G	37	6.121415	0.97300	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	.	.	.	X	424	.	ENSP00000261250:S424X	S	-	2	0	C12orf4	4479734	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.377000	0.97184	2.658000	0.90341	0.591000	0.81541	TCA		0.393	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		17	44	0	0	0	1	0	17	44				
IGLC2	3538	broad.mit.edu	37	22	23241811	23241811	+	RNA	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:23241811G>A	ENST00000390323.2	+	0	0				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGTATTCGGCGGAGGGACCAA	0.562																																						ENST00000390322.2																			0																				178.0	158.0	164.0					22																	23241811		1999	4162	6161			28832							g.chr22:23241811G>A	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23241811G>A														0	151	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.562	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		36	55	0	0	0	1	0	36	55				
OR1D2	4991	broad.mit.edu	37	17	2996173	2996173	+	Missense_Mutation	SNP	C	C	G	rs140099014	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:2996173C>G	ENST00000331459.1	-	1	117	c.118G>C	c.(118-120)Gtg>Ctg	p.V40L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	40					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACATTTCCCACCACCGTGACC	0.547													g|||	8	0.00159744	0.0045	0.0	5008	,	,		18391	0.001		0.0	False		,,,				2504	0.001					ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(118-120)Gtg>Ctg		olfactory receptor, family 1, subfamily D, member 2		G	LEU/VAL	4,4402	8.1+/-20.4	0,4,2199	131.0	122.0	125.0		118	-5.4	0.0	17	dbSNP_134	125	5,8595	4.3+/-15.6	0,5,4295	no	missense	OR1D2	NM_002548.2	32	0,9,6494	GG,GC,CC		0.0581,0.0908,0.0692	benign	40/313	2996173	9,12997	2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996173C>G	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.118G>C	17.37:g.2996173C>G	ENSP00000327585:p.Val40Leu						p.V40L	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	117	-			40					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.118G>C	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.631969	0.00115	9.08E-4	5.81E-4	ENSG00000184166	ENST00000331459	T	0.00258	8.41	3.14	-5.41	0.02648	.	.	.	.	.	T	0.00039	0.0001	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20240	-1.0281	9	0.02654	T	1	.	7.2057	0.25905	0.0:0.1731:0.4805:0.3463	.	40	P34982	OR1D2_HUMAN	L	40	ENSP00000327585:V40L	ENSP00000327585:V40L	V	-	1	0	OR1D2	2942923	0.000000	0.05858	0.004000	0.12327	0.291000	0.27294	-4.221000	0.00271	-1.652000	0.01502	-1.371000	0.01190	GTG		0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		6	124	0	0	0	1	0	6	124				
BROX	148362	broad.mit.edu	37	1	222897441	222897441	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:222897441G>C	ENST00000340934.5	+	6	815	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	BROX_ENST00000537020.1_Missense_Mutation_p.E137Q|BROX_ENST00000539697.1_Missense_Mutation_p.E105Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	137	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						AAGTATAACAGAAGATGAAGC	0.303																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(409-411)Gaa>Caa		BRO1 domain and CAAX motif containing							65.0	63.0	64.0					1																	222897441		2203	4298	6501	SO:0001583	missense	148362					membrane		g.chr1:222897441G>C		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.409G>C	1.37:g.222897441G>C	ENSP00000343742:p.Glu137Gln					BROX_ENST00000539697.1_Missense_Mutation_p.E105Q|BROX_ENST00000537020.1_Missense_Mutation_p.E137Q	p.E137Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			6	815	+			137			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.409G>C	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456376	0.84317	.	.	ENSG00000162819	ENST00000340934;ENST00000426638;ENST00000537020;ENST00000539697	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.51	5.51	0.81932	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.994	D;D;D	0.72338	0.91;0.977;0.926	T	0.20840	-1.0263	10	0.31617	T	0.26	-3.5391	19.3973	0.94612	0.0:0.0:1.0:0.0	.	137;105;137	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	Q	137;137;137;105	ENSP00000343742:E137Q;ENSP00000398862:E137Q;ENSP00000440041:E137Q;ENSP00000441080:E105Q	ENSP00000343742:E137Q	E	+	1	0	BROX	220964064	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.334000	0.96470	2.592000	0.87571	0.591000	0.81541	GAA		0.303	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		6	24	0	0	0	1	0	6	24				
PLS3	5358	broad.mit.edu	37	X	114874792	114874792	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:114874792G>A	ENST00000420625.2	+	9	1098	c.964G>A	c.(964-966)Gat>Aat	p.D322N	PLS3_ENST00000355899.3_Missense_Mutation_p.D322N|PLS3_ENST00000289290.3_Missense_Mutation_p.D286N|PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.D277N|PLS3_ENST00000537301.1_Missense_Mutation_p.D309N	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	322	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACCACGGATAGATATTAACAT	0.313																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(964-966)Gat>Aat		plastin 3							157.0	134.0	142.0					X																	114874792		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114874792G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.964G>A	X.37:g.114874792G>A	ENSP00000398945:p.Asp322Asn					PLS3_ENST00000537301.1_Missense_Mutation_p.D309N|PLS3_ENST00000355899.3_Missense_Mutation_p.D322N|PLS3_ENST00000289290.3_Missense_Mutation_p.D286N|PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.D277N	p.D322N	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			9	1098	+			322			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.964G>A	CCDS14568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.34|14.34	2.507134|2.507134	0.44558|0.44558	.|.	.|.	ENSG00000102024|ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310|ENST00000497870	T;D;D;T;D|.	0.85773|.	-0.5;-1.8;-2.02;-0.5;-2.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Calponin homology domain (5);|.	0.041576|.	0.85682|.	D|.	0.000000|.	T|T	0.51227|0.51227	0.1662|0.1662	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.28258|.	0.0;0.0;0.205;0.0|.	B;B;B;B|.	0.29663|.	0.002;0.001;0.105;0.002|.	T|T	0.47407|0.47407	-0.9120|-0.9120	10|5	0.15499|.	T|.	0.54|.	-23.5118|-23.5118	17.269|17.269	0.87096|0.87096	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	295;309;286;322|.	B4DPW9;B4DGB4;F8W8D8;P13797|.	.;.;.;PLST_HUMAN|.	N|K	322;309;286;322;277|42	ENSP00000348163:D322N;ENSP00000445105:D309N;ENSP00000289290:D286N;ENSP00000398945:D322N;ENSP00000445339:D277N|.	ENSP00000289290:D286N|.	D|R	+|+	1|2	0|0	PLS3|PLS3	114781048|114781048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.772000|6.772000	0.75001|0.75001	2.394000|2.394000	0.81467|0.81467	0.600000|0.600000	0.82982|0.82982	GAT|AGA		0.313	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			11	26	0	0	0	1	0	11	26				
RRBP1	6238	broad.mit.edu	37	20	17599307	17599307	+	Silent	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:17599307T>C	ENST00000377813.1	-	20	3996	c.3693A>G	c.(3691-3693)ctA>ctG	p.L1231L	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.L798L|RRBP1_ENST00000455029.2_Silent_p.L572L|RRBP1_ENST00000246043.4_Silent_p.L1231L|RRBP1_ENST00000377807.2_Silent_p.L798L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1231					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATTGAGATTCTAGGAGAAGTT	0.542																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(3691-3693)ctA>ctG		ribosome binding protein 1							78.0	75.0	76.0					20																	17599307		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17599307T>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3693A>G	20.37:g.17599307T>C						RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.L798L|RRBP1_ENST00000377807.2_Silent_p.L798L|RRBP1_ENST00000455029.2_Silent_p.L572L|RRBP1_ENST00000246043.4_Silent_p.L1231L	p.L1231L			Q9P2E9	RRBP1_HUMAN			20	3996	-			1231					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.3693A>G																																																																																					0.542	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		6	46	0	0	0	1	0	6	46				
DNAJB11	51726	broad.mit.edu	37	3	186289893	186289893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:186289893C>G	ENST00000439351.1	+	3	1007	c.78C>G	c.(76-78)ttC>ttG	p.F26L	TBCCD1_ENST00000446782.1_5'Flank|DNAJB11_ENST00000265028.3_Missense_Mutation_p.F26L|TBCCD1_ENST00000424280.1_5'Flank			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	26	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GACGAGATTTCTATAAGATCT	0.393																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(76-78)ttC>ttG		DnaJ (Hsp40) homolog, subfamily B, member 11							64.0	68.0	66.0					3																	186289893		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186289893C>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.78C>G	3.37:g.186289893C>G	ENSP00000414398:p.Phe26Leu					DNAJB11_ENST00000265028.3_Missense_Mutation_p.F26L	p.F26L			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	3	1007	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		26			J.		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.78C>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755898	0.49362	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.29142	1.58;1.58	5.4	4.52	0.55395	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.02213	-0.635	0.80722	D	1	P	0.35700	0.516	B	0.38194	0.267	T	0.11518	-1.0584	10	0.42905	T	0.14	-12.4283	8.0306	0.30463	0.0:0.8234:0.0:0.1766	.	26	Q9UBS4	DJB11_HUMAN	L	26	ENSP00000414398:F26L;ENSP00000265028:F26L	ENSP00000265028:F26L	F	+	3	2	DNAJB11	187772587	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.541000	0.53618	1.519000	0.48950	0.650000	0.86243	TTC		0.393	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			4	58	0	0	0	1	0	4	58				
BGLAP	632	broad.mit.edu	37	1	156209338	156209338	+	5'Flank	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:156209338G>T	ENST00000368272.4	+	0	0				PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368273.4_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000368277.3_Splice_Site|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368279.3_Splice_Site|PMF1_ENST00000567140.1_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein						bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	ATTGATTTCAGGCTCTACACA	0.567																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e5-1		polyamine-modulated factor 1							144.0	140.0	141.0					1																	156209338		2203	4300	6503	SO:0001631	upstream_gene_variant	11243							g.chr1:156209338G>T	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819		1.37:g.156209338G>T	Exception_encountered					PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000368273.4_Splice_Site|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron		NM_007221.3	NP_009152.2					5	573	+	Hepatocellular(266;0.158)							Q5TCK6	Splice_Site	SNP	ENST00000368272.4	37		CCDS1134.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.128303	0.56721	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1526	0.65395	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PMF1	154475962	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.612000	0.61169	2.809000	0.96659	0.651000	0.88453	.		0.567	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		23	89	1	0	1.42536e-11	1	1.67185e-11	23	89				
DUSP4	1846	broad.mit.edu	37	8	29207652	29207652	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:29207652C>T	ENST00000240100.2	-	1	533	c.144G>A	c.(142-144)ctG>ctA	p.L48L	RP4-676L2.1_ENST00000567818.1_RNA|DUSP4_ENST00000240101.2_5'Flank	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	48	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCTGCAGTCCAGCAGCAGGC	0.687																																						ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(142-144)ctG>ctA		dual specificity phosphatase 4							15.0	18.0	17.0					8																	29207652		2193	4288	6481	SO:0001819	synonymous_variant	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29207652C>T	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.144G>A	8.37:g.29207652C>T							p.L48L	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	1	533	-			48			Rhodanese.		B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	ENST00000240100.2	37	c.144G>A	CCDS6072.1																																																																																				0.687	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		8	13	0	0	0	1	0	8	13				
DSTYK	25778	broad.mit.edu	37	1	205156746	205156746	+	Missense_Mutation	SNP	G	G	A	rs202242580		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:205156746G>A	ENST00000367162.3	-	2	484	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	DSTYK_ENST00000367161.3_Missense_Mutation_p.R152C|DSTYK_ENST00000367160.4_Missense_Mutation_p.R152C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	152					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAGCGGAGGCGCCGAAGCTTA	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.0					ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(454-456)Cgc>Tgc		dual serine/threonine and tyrosine protein kinase							52.0	47.0	49.0					1																	205156746		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205156746G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.454C>T	1.37:g.205156746G>A	ENSP00000356130:p.Arg152Cys					DSTYK_ENST00000367161.3_Missense_Mutation_p.R152C|DSTYK_ENST00000367160.4_Missense_Mutation_p.R152C	p.R152C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			2	484	-			152					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.454C>T	CCDS1451.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.9	4.578984	0.86645	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.79033	-0.79;-1.15;-1.23	5.53	5.53	0.82687	.	0.056493	0.64402	D	0.000001	D	0.82921	0.5142	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.59221	0.854;0.719	D	0.84323	0.0517	10	0.72032	D	0.01	-18.8247	19.0549	0.93059	0.0:0.0:1.0:0.0	.	152;152	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	152	ENSP00000356128:R152C;ENSP00000356129:R152C;ENSP00000356130:R152C	ENSP00000356128:R152C	R	-	1	0	DSTYK	203423369	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.603000	0.67619	2.596000	0.87737	0.561000	0.74099	CGC		0.587	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		5	45	0	0	0	1	0	5	45				
UMODL1	89766	broad.mit.edu	37	21	43531711	43531711	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr21:43531711G>A	ENST00000408910.2	+	12	1995	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R	UMODL1_ENST00000400424.2_Silent_p.R593R|UMODL1_ENST00000400427.1_Silent_p.R721R|UMODL1_ENST00000408989.2_Silent_p.R793R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	665					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTTCCACCCGGGAAACACTTC	0.602																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2161-2163)cgG>cgA		uromodulin-like 1							50.0	60.0	57.0					21																	43531711		2008	4164	6172	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531711G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1995G>A	21.37:g.43531711G>A						UMODL1_ENST00000400424.1_Silent_p.R593R|UMODL1_ENST00000408910.2_Silent_p.R665R|UMODL1_ENST00000408989.2_Silent_p.R793R	p.R721R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			11	2559	+			718			Fibronectin type-III 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.2163G>A	CCDS42936.1																																																																																				0.602	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			18	24	0	0	0	1	0	18	24				
MAST3	23031	broad.mit.edu	37	19	18255941	18255941	+	Missense_Mutation	SNP	G	G	A	rs200457728		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:18255941G>A	ENST00000262811.6	+	23	2854	c.2854G>A	c.(2854-2856)Gtt>Att	p.V952I	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	952	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCCCATCGTTATCCACAG	0.652																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2854-2856)Gtt>Att		microtubule associated serine/threonine kinase 3		G	ILE/VAL	0,4082		0,0,2041	94.0	101.0	98.0		2854	0.9	1.0	19		98	1,8381		0,1,4190	yes	missense	MAST3	NM_015016.1	29	0,1,6231	AA,AG,GG		0.0119,0.0,0.0080	benign	952/1310	18255941	1,12463	2041	4191	6232	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255941G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2854G>A	19.37:g.18255941G>A	ENSP00000262811:p.Val952Ile					AC007192.6_ENST00000600364.1_RNA	p.V952I	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			23	2854	+			952			PDZ.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2854G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199934	0.06219	0.0	1.19E-4	ENSG00000099308	ENST00000262811	T	0.42513	0.97	4.72	0.934	0.19477	PDZ/DHR/GLGF (2);	0.212709	0.38720	N	0.001582	T	0.19208	0.0461	N	0.20685	0.6	0.38378	D	0.94505	B	0.18610	0.029	B	0.16289	0.015	T	0.23976	-1.0173	10	0.02654	T	1	-29.4811	6.9692	0.24639	0.4711:0.0:0.5289:0.0	.	952	O60307	MAST3_HUMAN	I	952	ENSP00000262811:V952I	ENSP00000262811:V952I	V	+	1	0	MAST3	18116941	0.976000	0.34144	0.994000	0.49952	0.628000	0.37860	1.449000	0.35123	0.428000	0.26173	0.313000	0.20887	GTT		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		21	108	0	0	0	1	0	21	108				
WDR59	79726	broad.mit.edu	37	16	74949804	74949804	+	Silent	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:74949804G>C	ENST00000262144.6	-	13	1318	c.1188C>G	c.(1186-1188)tcC>tcG	p.S396S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	396	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTGATCAGGGAGAATTCCT	0.468																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1186-1188)tcC>tcG		WD repeat domain 59							111.0	99.0	103.0					16																	74949804		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74949804G>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1188C>G	16.37:g.74949804G>C							p.S396S	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			13	1318	-			396			RWD.		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.1188C>G	CCDS32488.1																																																																																				0.468	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		7	56	0	0	0	1	0	7	56				
SORT1	6272	broad.mit.edu	37	1	109870185	109870185	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:109870185C>T	ENST00000256637.6	-	12	1468	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SORT1_ENST00000538502.1_Silent_p.Q333Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	470					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATTCAGTTTCTGGGAGATGC	0.438																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1408-1410)caG>caA		sortilin 1							95.0	88.0	91.0					1																	109870185		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109870185C>T	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1410G>A	1.37:g.109870185C>T						SORT1_ENST00000538502.1_Silent_p.Q333Q	p.Q470Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	12	1468	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	470					B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.1410G>A	CCDS798.1																																																																																				0.438	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		9	34	0	0	0	1	0	9	34				
SLC2A4	6517	broad.mit.edu	37	17	7189281	7189281	+	Intron	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:7189281C>A	ENST00000317370.8	+	10	1594				SLC2A4_ENST00000424875.2_Missense_Mutation_p.H450Q|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.H460Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4						amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGGCATCACACAGCTAGCCCA	0.592																																						ENST00000424875.2																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1348-1350)caC>caA		solute carrier family 2 (facilitated glucose transporter), member 4																																				SO:0001627	intron_variant	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7189281C>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1326+54C>A	17.37:g.7189281C>A						SLC2A4_ENST00000571308.1_Missense_Mutation_p.H460Q|SLC2A4_ENST00000317370.8_Intron	p.H450Q			P14672	GTR4_HUMAN			10	1647	+			0					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.1350C>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845106	0.51164	.	.	ENSG00000181856	ENST00000424875	T	0.80738	-1.41	4.45	-3.12	0.05282	.	.	.	.	.	T	0.59142	0.2172	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40001	-0.9586	7	.	.	.	.	3.0464	0.06155	0.313:0.3106:0.0:0.3764	.	450	F5H081	.	Q	450	ENSP00000396887:H450Q	.	H	+	3	2	SLC2A4	7130005	0.000000	0.05858	0.000000	0.03702	0.581000	0.36288	-0.616000	0.05591	-0.278000	0.09180	0.563000	0.77884	CAC		0.592	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			4	11	1	0	0.00024832	1	0.000265328	4	11				
WHSC1L1	54904	broad.mit.edu	37	8	38172932	38172932	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:38172932A>T	ENST00000317025.8	-	11	2633		c.e11+1		WHSC1L1_ENST00000433384.2_Splice_Site|WHSC1L1_ENST00000527502.1_Splice_Site|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTACCTGCCTACCTGACATAC	0.403			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.e11+1		Wolf-Hirschhorn syndrome candidate 1-like 1							198.0	182.0	187.0					8																	38172932		1948	4149	6097	SO:0001630	splice_region_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38172932A>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2115+1T>A	8.37:g.38172932A>T						WHSC1L1_ENST00000527502.1_Splice_Site|WHSC1L1_ENST00000433384.2_Splice_Site		NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		11	2633	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)						B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Splice_Site	SNP	ENST00000317025.8	37		CCDS43729.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920208	0.73098	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WHSC1L1	38292089	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.159000	0.77483	2.307000	0.77673	0.528000	0.53228	.		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	Intron	19	141	0	0	0	1	0	19	141				
SLC5A9	200010	broad.mit.edu	37	1	48703424	48703424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:48703424C>G	ENST00000438567.2	+	11	1418	c.1366C>G	c.(1366-1368)Ctc>Gtc	p.L456V	SLC5A9_ENST00000236495.5_Missense_Mutation_p.L481V|SLC5A9_ENST00000533824.1_Missense_Mutation_p.L477V	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	456					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGTGGGCAGCTCTTCGACTA	0.572																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(1441-1443)Ctc>Gtc		solute carrier family 5 (sodium/sugar cotransporter), member 9							176.0	137.0	150.0					1																	48703424		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48703424C>G	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1366C>G	1.37:g.48703424C>G	ENSP00000401730:p.Leu456Val					SLC5A9_ENST00000533824.1_Missense_Mutation_p.L477V|SLC5A9_ENST00000438567.2_Missense_Mutation_p.L456V	p.L481V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			12	1491	+			456					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1441C>G	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	c	26.5	4.746941	0.89663	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87412	-2.25;-2.25;-2.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.80982	2.52	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.75484	0.958;0.976;0.986	D	0.93947	0.7228	10	0.62326	D	0.03	.	17.5459	0.87861	0.0:1.0:0.0:0.0	.	477;456;481	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	V	477;456;481	ENSP00000431900:L477V;ENSP00000401730:L456V;ENSP00000236495:L481V	ENSP00000236495:L481V	L	+	1	0	SLC5A9	48476011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.624000	0.88883	0.651000	0.88453	CTC		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		7	64	0	0	0	1	0	7	64				
HERC2P3	283755	broad.mit.edu	37	15	20666448	20666448	+	RNA	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:20666448C>T	ENST00000428453.1	-	0	870							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCTTACTGGCACATTCAATC	0.433																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															36.0	30.0	32.0					15																	20666448		2193	4262	6455			283755							g.chr15:20666448C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20666448C>T														0	870	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.433	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	22	0	0	0	1	0	3	22				
CCDC39	339829	broad.mit.edu	37	3	180377524	180377524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:180377524C>A	ENST00000442201.2	-	5	669	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.E268*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	184					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E268*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGATTACATTCCAAAGTTAGT	0.289																																						ENST00000273654.4																			1	Substitution - Nonsense(1)	p.E268*(1)	ovary(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(802-804)Gaa>Taa		coiled-coil domain containing 39							146.0	137.0	139.0					3																	180377524		1818	4078	5896	SO:0001587	stop_gained	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180377524C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.550G>T	3.37:g.180377524C>A	ENSP00000405708:p.Glu184*					CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E184*	p.E268*			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		11	1421	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		184					B4E2H1	Nonsense_Mutation	SNP	ENST00000442201.2	37	c.802G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	42	9.544725	0.99201	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.87	5.87	0.94306	.	0.139600	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-25.7666	16.8816	0.86064	0.0:0.808:0.192:0.0	.	.	.	.	X	268;184	.	ENSP00000273654:E268X	E	-	1	0	CCDC39	181860218	1.000000	0.71417	0.999000	0.59377	0.072000	0.16883	3.373000	0.52394	2.784000	0.95788	0.585000	0.79938	GAA		0.289	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		3	32	1	0	0.004672	1	0.0048267	3	32				
CYP4B1	1580	broad.mit.edu	37	1	47279207	47279207	+	Silent	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:47279207T>C	ENST00000271153.4	+	5	585	c.549T>C	c.(547-549)gaT>gaC	p.D183D	CYP4B1_ENST00000452782.2_Silent_p.D20D|CYP4B1_ENST00000371919.4_Silent_p.D168D|CYP4B1_ENST00000371923.4_Silent_p.D183D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	183					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCTTCTGCGATGTGGGTCACA	0.587																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(547-549)gaT>gaC		cytochrome P450, family 4, subfamily B, polypeptide 1							119.0	113.0	115.0					1																	47279207		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279207T>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.549T>C	1.37:g.47279207T>C						CYP4B1_ENST00000452782.2_Silent_p.D20D|CYP4B1_ENST00000371919.4_Silent_p.D168D|CYP4B1_ENST00000371923.4_Silent_p.D183D	p.D183D			P13584	CP4B1_HUMAN			5	585	+	Acute lymphoblastic leukemia(166;0.155)		183					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.549T>C	CCDS542.1																																																																																				0.587	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		6	57	0	0	0	1	0	6	57				
PRUNE2	158471	broad.mit.edu	37	9	79461549	79461549	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr9:79461549C>T	ENST00000376718.3	-	4	513	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PRUNE2_ENST00000376713.3_Silent_p.P130P|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	130					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTCAACCGGATTAATGA	0.458																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(388-390)ccG>ccA		prune homolog 2 (Drosophila)							112.0	110.0	111.0					9																	79461549		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79461549C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.390G>A	9.37:g.79461549C>T						PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.P130P	p.P130P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			4	513	-			130					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.390G>A	CCDS47982.1																																																																																				0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	27	0	0	0	1	0	6	27				
ZBTB25	7597	broad.mit.edu	37	14	64954651	64954651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:64954651G>A	ENST00000608382.1	-	3	489	c.298C>T	c.(298-300)Cga>Tga	p.R100*	ZBTB25_ENST00000394715.1_Nonsense_Mutation_p.R100*|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGAAGAAATCGAATCCCTTCC	0.423																																						ENST00000394715.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10						c.(298-300)Cga>Tga		zinc finger and BTB domain containing 25							109.0	97.0	101.0					14																	64954651		2203	4300	6503	SO:0001587	stop_gained	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64954651G>A	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.298C>T	14.37:g.64954651G>A	ENSP00000476746:p.Arg100*					ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.R100*	p.R100*			P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	6	999	-			100			BTB.		B3KUX6|Q8IYH9	Nonsense_Mutation	SNP	ENST00000608382.1	37	c.298C>T	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	G	41	9.003718	0.99033	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	.	.	.	5.92	4.98	0.66077	.	0.107106	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-12.5667	13.7392	0.62838	0.0:0.0:0.7309:0.2691	.	.	.	.	X	100	.	ENSP00000261683:R100X	R	-	1	2	ZBTB25	64024404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.855000	0.69510	2.813000	0.96785	0.561000	0.74099	CGA		0.423	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		10	77	0	0	0	1	0	10	77				
TARS	6897	broad.mit.edu	37	5	33461017	33461017	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:33461017G>C	ENST00000265112.3	+	12	1572	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	TARS_ENST00000541634.1_Missense_Mutation_p.D317H|TARS_ENST00000502553.1_Missense_Mutation_p.D421H|TARS_ENST00000414361.2_Missense_Mutation_p.D300H|TARS_ENST00000455217.2_Missense_Mutation_p.D454H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	421					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CCTTATGTTTGATCATCGGCC	0.453																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1261-1263)Gat>Cat		threonyl-tRNA synthetase	L-Threonine(DB00156)						67.0	70.0	69.0					5																	33461017		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461017G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1261G>C	5.37:g.33461017G>C	ENSP00000265112:p.Asp421His					TARS_ENST00000541634.1_Missense_Mutation_p.D317H|TARS_ENST00000502553.1_Missense_Mutation_p.D421H|TARS_ENST00000455217.2_Missense_Mutation_p.D454H|TARS_ENST00000414361.2_Missense_Mutation_p.D300H	p.D421H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1572	+			421					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1261G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502948	0.85176	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.71674	0.982;0.998;0.964;0.998	P;D;P;D	0.67231	0.84;0.95;0.834;0.95	D	0.86494	0.1799	10	0.52906	T	0.07	-28.5549	20.8794	0.99867	0.0:0.0:1.0:0.0	.	300;454;317;421	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	421;421;317;454;300	ENSP00000424387:D421H;ENSP00000265112:D421H;ENSP00000438469:D317H;ENSP00000387710:D454H;ENSP00000394291:D300H	ENSP00000265112:D421H	D	+	1	0	TARS	33496774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.732000	0.74790	2.941000	0.99782	0.655000	0.94253	GAT		0.453	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		5	49	0	0	0	1	0	5	49				
MFSD1	64747	broad.mit.edu	37	3	158531858	158531858	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:158531858T>C	ENST00000264266.8	+	7	714		c.e7+2		MFSD1_ENST00000392813.4_Splice_Site|MFSD1_ENST00000415822.2_Splice_Site			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTATGATTGGTGAGTGAATCC	0.448																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.e7+2		major facilitator superfamily domain containing 1							163.0	126.0	139.0					3																	158531858		2203	4300	6503	SO:0001630	splice_region_variant	64747				transmembrane transport	integral to membrane		g.chr3:158531858T>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.652+2T>C	3.37:g.158531858T>C						MFSD1_ENST00000264266.8_Splice_Site|MFSD1_ENST00000392813.4_Splice_Site		NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		7	940	+								B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Splice_Site	SNP	ENST00000264266.8	37			.	.	.	.	.	.	.	.	.	.	t	19.23	3.788467	0.70337	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8558	0.70335	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD1	160014552	1.000000	0.71417	0.997000	0.53966	0.739000	0.42172	7.825000	0.86693	1.964000	0.57103	0.528000	0.53228	.		0.448	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	Intron	6	38	0	0	0	1	0	6	38				
ZFYVE21	79038	broad.mit.edu	37	14	104199002	104199002	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:104199002C>T	ENST00000311141.2	+	6	606	c.572C>T	c.(571-573)cCg>cTg	p.P191L	PPP1R13B_ENST00000555391.1_5'Flank|ZFYVE21_ENST00000216602.6_Missense_Mutation_p.P209L	NM_024071.3	NP_076976.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	191	PH-like.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		TATACAGTGCCGGGGACGGAG	0.642																																						ENST00000216602.6																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(625-627)cCg>cTg		zinc finger, FYVE domain containing 21							112.0	113.0	113.0					14																	104199002		2203	4300	6503	SO:0001583	missense	79038					cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding	g.chr14:104199002C>T	AK057816	CCDS9985.1, CCDS55948.1	14q32.33	2011-09-07						"""Zinc fingers, FYVE domain containing"""	20760	protein-coding gene	gene with protein product		613504				21768110	Standard	NM_024071		Approved	MGC2550, ZF21	uc001yod.3	Q9BQ24		ENST00000311141.2:c.572C>T	14.37:g.104199002C>T	ENSP00000310543:p.Pro191Leu					ZFYVE21_ENST00000311141.2_Missense_Mutation_p.P191L	p.P209L	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN		Epithelial(152;0.245)	7	738	+		Melanoma(154;0.226)	191					A8K3A4|Q86T05|Q96LT1	Missense_Mutation	SNP	ENST00000311141.2	37	c.626C>T	CCDS9985.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301801	0.23736	.	.	ENSG00000100711	ENST00000216602;ENST00000311141	T;T	0.72835	-0.69;-0.64	5.47	4.57	0.56435	.	0.279899	0.40554	N	0.001071	T	0.69305	0.3096	M	0.70595	2.14	0.30067	N	0.810399	P;P	0.46952	0.887;0.736	B;B	0.41666	0.363;0.14	T	0.70502	-0.4854	10	0.39692	T	0.17	-20.4621	13.3011	0.60326	0.2883:0.7117:0.0:0.0	.	209;191	Q9BQ24-2;Q9BQ24	.;ZFY21_HUMAN	L	209;191	ENSP00000216602:P209L;ENSP00000310543:P191L	ENSP00000216602:P209L	P	+	2	0	ZFYVE21	103268755	0.196000	0.23350	0.044000	0.18714	0.266000	0.26442	1.887000	0.39698	1.288000	0.44600	0.563000	0.77884	CCG		0.642	ZFYVE21-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000414616.1	NM_024071		7	63	0	0	0	1	0	7	63				
NOL4	8715	broad.mit.edu	37	18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(340-342)tCg>tTg		nucleolar protein 4							125.0	111.0	116.0					18																	31709908		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31709908G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.341C>T	18.37:g.31709908G>A	ENSP00000261592:p.Ser114Leu					NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L	p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	638	-			114					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.341C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	33	5.198531	0.94997	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	D	0.82984	-1.67	5.72	5.72	0.89469	.	.	.	.	.	D	0.84826	0.5558	L	0.46157	1.445	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50617	0.646;0.569;0.569	D	0.86139	0.1580	9	0.72032	D	0.01	-2.6538	18.866	0.92292	0.0:0.0:1.0:0.0	.	40;114;114	B4DSQ0;O94818;O94818-2	.;NOL4_HUMAN;.	L	114;40	ENSP00000261592:S114L	ENSP00000261592:S114L	S	-	2	0	NOL4	29963906	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.268000	0.95675	2.710000	0.92621	0.585000	0.79938	TCG		0.388	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		8	26	0	0	0	1	0	8	26				
GRIP1	23426	broad.mit.edu	37	12	66826405	66826405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:66826405G>T	ENST00000398016.3	-	13	1603	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y	GRIP1_ENST00000359742.4_Missense_Mutation_p.S564Y|GRIP1_ENST00000286445.7_Missense_Mutation_p.S564Y	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGGATGACAGACTCTAATAT	0.328																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1690-1692)tCt>tAt		glutamate receptor interacting protein 1							96.0	88.0	91.0					12																	66826405		1846	4091	5937	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66826405G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1535C>A	12.37:g.66826405G>T	ENSP00000381098:p.Ser512Tyr					GRIP1_ENST00000398016.3_Missense_Mutation_p.S512Y|GRIP1_ENST00000286445.7_Missense_Mutation_p.S564Y	p.S564Y			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	14	1931	-			564					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1691C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795456|3.795456	0.70452|0.70452	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|D;D;D;D;D;D	.|0.83250	.|-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.74|5.74	5.74|5.74	0.90152|0.90152	.|PDZ/DHR/GLGF (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91764|0.91764	0.7395|0.7395	M|M	0.81239|0.81239	2.535|2.535	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.986;0.998;1.0;0.999	.|D;D;D;D	.|0.91635	.|0.995;0.994;0.999;0.999	D|D	0.91220|0.91220	0.5006|0.5006	5|9	.|.	.|.	.|.	-13.0786|-13.0786	19.5177|19.5177	0.95171|0.95171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|512;564;512;564	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	M|Y	379|512;564;564;512;456;404	.|ENSP00000381098:S512Y;ENSP00000352780:S564Y;ENSP00000286445:S564Y;ENSP00000446047:S512Y;ENSP00000446024:S456Y;ENSP00000446011:S404Y	.|.	L|S	-|-	1|2	2|0	GRIP1|GRIP1	65112672|65112672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.639000|0.639000	0.38242|0.38242	7.926000|7.926000	0.87569|0.87569	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.328	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			5	17	1	0	0.00116845	1	0.00122334	5	17				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	18	0	0	0	1	0	3	18				
OR2T1	26696	broad.mit.edu	37	1	248569809	248569809	+	Missense_Mutation	SNP	C	C	T	rs369905309	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:248569809C>T	ENST00000366474.1	+	1	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCTATGACCGCTATGTGGC	0.532													.|||	2	0.000399361	0.0	0.0	5008	,	,		20422	0.0		0.0	False		,,,				2504	0.002					ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(514-516)Cgc>Tgc		olfactory receptor, family 2, subfamily T, member 1		C	CYS/ARG	0,4406		0,0,2203	139.0	136.0	137.0		514	1.8	1.0	1		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T1	NM_030904.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	172/370	248569809	1,13005	2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569809C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.514C>T	1.37:g.248569809C>T	ENSP00000355430:p.Arg172Cys						p.R172C	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	514	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		172					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.514C>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	13.42	2.233133	0.39498	0.0	1.16E-4	ENSG00000175143	ENST00000366474	T	0.77358	-1.09	4.75	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002091	T	0.67534	0.2903	L	0.53729	1.69	0.42859	D	0.994107	B	0.28291	0.206	B	0.20184	0.028	T	0.62072	-0.6931	10	0.72032	D	0.01	.	6.5243	0.22293	0.1452:0.6931:0.0:0.1617	.	172	O43869	OR2T1_HUMAN	C	172	ENSP00000355430:R172C	ENSP00000355430:R172C	R	+	1	0	OR2T1	246636432	0.003000	0.15002	0.987000	0.45799	0.999000	0.98932	-0.116000	0.10724	0.194000	0.20326	0.650000	0.86243	CGC		0.532	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			9	110	0	0	0	1	0	9	110				
RAD54L2	23132	broad.mit.edu	37	3	51696557	51696557	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:51696557C>T	ENST00000409535.2	+	22	3650	c.3525C>T	c.(3523-3525)atC>atT	p.I1175I	RAD54L2_ENST00000296477.3_Silent_p.I869I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1175						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGAGATCATCAGTGAGC	0.647																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3523-3525)atC>atT		RAD54-like 2 (S. cerevisiae)							58.0	61.0	60.0					3																	51696557		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51696557C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3525C>T	3.37:g.51696557C>T						RAD54L2_ENST00000296477.3_Silent_p.I869I	p.I1175I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	3650	+			1175					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.3525C>T	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	4.806	0.149775	0.09185	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57283	-0.7838	4	.	.	.	-11.7421	9.3192	0.37952	0.0:0.8383:0.0:0.1617	.	.	.	.	Y	1004	.	.	H	+	1	0	RAD54L2	51671597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.696000	0.37773	1.270000	0.44297	0.563000	0.77884	CAT		0.647	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		9	37	0	0	0	1	0	9	37				
PDZRN4	29951	broad.mit.edu	37	12	41966826	41966826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:41966826C>A	ENST00000402685.2	+	10	2253	c.2245C>A	c.(2245-2247)Ccg>Acg	p.P749T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.P491T|PDZRN4_ENST00000298919.7_Missense_Mutation_p.P489T	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	749							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGAAGTACTCCGCTCACTGT	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1465-1467)Ccg>Acg		PDZ domain containing ring finger 4							104.0	102.0	103.0					12																	41966826		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966826C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2245C>A	12.37:g.41966826C>A	ENSP00000384197:p.Pro749Thr					PDZRN4_ENST00000539469.2_Missense_Mutation_p.P491T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.P749T	p.P489T			Q6ZMN7	PZRN4_HUMAN			10	1853	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	749					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1465C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795346	0.70452	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.82619	-1.63;2.91;2.89	4.99	4.99	0.66335	.	0.172812	0.41097	D	0.000946	D	0.92374	0.7580	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.92629	0.6114	10	0.52906	T	0.07	-26.6072	19.1701	0.93574	0.0:1.0:0.0:0.0	.	749;489;491	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	T	749;491;489	ENSP00000384197:P749T;ENSP00000439990:P491T;ENSP00000298919:P489T	ENSP00000298919:P489T	P	+	1	0	PDZRN4	40253093	1.000000	0.71417	0.697000	0.30258	0.838000	0.47535	7.776000	0.85560	2.706000	0.92434	0.650000	0.86243	CCG		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		11	78	1	0	1.08611e-07	1	1.22777e-07	11	78				
PPP1CA	5499	broad.mit.edu	37	11	67167046	67167046	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:67167046A>C	ENST00000376745.4	-	4	657	c.509T>G	c.(508-510)tTc>tGc	p.F170C	PPP1CA_ENST00000358239.4_Missense_Mutation_p.F126C|PPP1CA_ENST00000312989.7_Missense_Mutation_p.F181C|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	170					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GTGGCAGCAGAAGATCTTTTC	0.592																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(508-510)tTc>tGc		protein phosphatase 1, catalytic subunit, alpha isozyme							155.0	128.0	137.0					11																	67167046		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67167046A>C		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.509T>G	11.37:g.67167046A>C	ENSP00000365936:p.Phe170Cys					PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.F181C|PPP1CA_ENST00000358239.4_Missense_Mutation_p.F126C	p.F170C	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		4	657	-			170					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.509T>G	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466459	0.43839	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	D;D;D	0.85629	-2.01;-2.01;-2.01	5.1	3.94	0.45596	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	H	0.99535	4.615	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.994;0.99	D	0.95200	0.8316	10	0.87932	D	0	.	10.9831	0.47506	0.8429:0.1571:0.0:0.0	.	267;267;170;126;181;179	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	C	181;267;170;126	ENSP00000326031:F181C;ENSP00000365936:F170C;ENSP00000350974:F126C	ENSP00000326031:F181C	F	-	2	0	PPP1CA	66923622	1.000000	0.71417	0.978000	0.43139	0.055000	0.15305	9.332000	0.96446	0.748000	0.32831	0.460000	0.39030	TTC		0.592	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		7	37	0	0	0	1	0	7	37				
RTP2	344892	broad.mit.edu	37	3	187419765	187419765	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:187419765T>G	ENST00000358241.1	-	1	580	c.152A>C	c.(151-153)cAc>cCc	p.H51P	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	51					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCTGAGGCGTGCTGCTCCAG	0.622																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(151-153)cAc>cCc		receptor (chemosensory) transporter protein 2							98.0	102.0	101.0					3																	187419765		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419765T>G	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.152A>C	3.37:g.187419765T>G	ENSP00000350976:p.His51Pro						p.H51P	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	580	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		51					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.152A>C	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021456	0.54576	.	.	ENSG00000198471	ENST00000358241	T	0.14893	2.47	4.61	4.61	0.57282	.	0.451574	0.25663	N	0.029128	T	0.29716	0.0742	L	0.44542	1.39	0.34927	D	0.749037	D	0.89917	1.0	D	0.79784	0.993	T	0.22138	-1.0225	10	0.29301	T	0.29	-14.6033	10.6843	0.45833	0.0:0.0:0.0:1.0	.	51	Q5QGT7	RTP2_HUMAN	P	51	ENSP00000350976:H51P	ENSP00000350976:H51P	H	-	2	0	RTP2	188902459	0.996000	0.38824	0.993000	0.49108	0.827000	0.46813	1.729000	0.38115	2.294000	0.77228	0.528000	0.53228	CAC		0.622	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		15	112	0	0	0	1	0	15	112				
SLC52A1	55065	broad.mit.edu	37	17	4936857	4936857	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:4936857C>T	ENST00000424747.1	-	3	1639	c.927G>A	c.(925-927)ggG>ggA	p.G309G	SLC52A1_ENST00000512825.2_Silent_p.G309G|SLC52A1_ENST00000254853.5_Silent_p.G309G	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	309					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										AGGCCAGGCGCCCATAGGGCA	0.642																																						ENST00000512825.2																			0											c.(925-927)ggG>ggA		solute carrier family 52 (riboflavin transporter), member 1							73.0	62.0	66.0					17																	4936857		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936857C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.927G>A	17.37:g.4936857C>T						SLC52A1_ENST00000254853.5_Silent_p.G309G|SLC52A1_ENST00000424747.1_Silent_p.G309G	p.G309G			Q9NWF4	RFT_HUMAN			3	2338	-			309					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.927G>A	CCDS11066.1																																																																																				0.642	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		23	30	0	0	0	1	0	23	30				
RNF213	57674	broad.mit.edu	37	17	78355364	78355364	+	Silent	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:78355364T>A	ENST00000582970.1	+	57	13958	c.13815T>A	c.(13813-13815)atT>atA	p.I4605I	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4654I|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2678I|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4605					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAACATCATTAAGCCTCCAG	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13813-13815)atT>atA		ring finger protein 213							101.0	90.0	93.0					17																	78355364		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78355364T>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13815T>A	17.37:g.78355364T>A						CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2678I|RNF213_ENST00000508628.2_Silent_p.I4654I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	p.I4605I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		57	13958	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.13815T>A	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	24	0	0	0	1	0	16	24				
CLEC18B	497190	broad.mit.edu	37	16	74447538	74447538	+	Silent	SNP	G	G	T	rs202025053		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:74447538G>T	ENST00000339953.5	-	4	614	c.493C>A	c.(493-495)Cgg>Agg	p.R165R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	165	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGGTGCCGCCCACAGCCC	0.612																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(493-495)Cgg>Agg		C-type lectin domain family 18, member B							135.0	130.0	131.0					16																	74447538		2198	4300	6498	SO:0001819	synonymous_variant	497190					extracellular region	sugar binding	g.chr16:74447538G>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.493C>A	16.37:g.74447538G>T							p.R165R	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			4	614	-			165			SCP.		B4DF90	Silent	SNP	ENST00000339953.5	37	c.493C>A	CCDS32484.1																																																																																				0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		6	106	1	0	0.0215528	1	0.0216918	6	106				
TPCN1	53373	broad.mit.edu	37	12	113715134	113715134	+	Silent	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:113715134C>T	ENST00000335509.6	+	12	1463	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	TPCN1_ENST00000392569.4_Silent_p.F315F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000550785.1_Silent_p.F455F	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	383					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.F383F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ATCTTACCTTCAAGGCCCTGA	0.582																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.F383F(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1363-1365)ttC>ttT		two pore segment channel 1							63.0	60.0	61.0					12																	113715134		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113715134C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1149C>T	12.37:g.113715134C>T						TPCN1_ENST00000392569.4_Silent_p.F315F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000335509.6_Silent_p.F383F	p.F455F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			13	1534	+			383					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.1365C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	2.266	-0.368181	0.05069	.	.	ENSG00000186815	ENST00000546781	.	.	.	5.25	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-38.6481	8.4433	0.32828	0.0:0.6866:0.0:0.3134	.	.	.	.	X	70	.	.	Q	+	1	0	TPCN1	112199517	0.997000	0.39634	0.993000	0.49108	0.195000	0.23768	0.383000	0.20651	0.382000	0.24878	-0.888000	0.02935	CAA		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		5	28	0	0	0	1	0	5	28				
LYPD3	27076	broad.mit.edu	37	19	43967419	43967419	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:43967419G>T	ENST00000244333.3	-	4	491	c.403C>A	c.(403-405)Ccc>Acc	p.P135T		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	135					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACGCCGTTGGGCGGGTATGCA	0.637																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(403-405)Ccc>Acc		LY6/PLAUR domain containing 3							51.0	47.0	49.0					19																	43967419		2203	4300	6503	SO:0001583	missense	27076					anchored to plasma membrane		g.chr19:43967419G>T	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.403C>A	19.37:g.43967419G>T	ENSP00000244333:p.Pro135Thr						p.P135T	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			4	491	-		Prostate(69;0.0153)	135					Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	c.403C>A	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737723	0.49045	.	.	ENSG00000124466	ENST00000244333	T	0.71222	-0.55	4.83	1.25	0.21368	.	0.433555	0.20569	N	0.089769	T	0.47395	0.1443	N	0.14661	0.345	0.25408	N	0.988388	B	0.27823	0.19	B	0.27076	0.076	T	0.37911	-0.9685	10	0.51188	T	0.08	.	4.7997	0.13290	0.197:0.177:0.626:0.0	.	135	O95274	LYPD3_HUMAN	T	135	ENSP00000244333:P135T	ENSP00000244333:P135T	P	-	1	0	LYPD3	48659259	0.851000	0.29673	0.399000	0.26333	0.246000	0.25737	0.958000	0.29227	0.596000	0.29794	-0.390000	0.06520	CCC		0.637	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		15	34	1	0	6.31663e-08	1	7.19266e-08	15	34				
OR11H12	440153	broad.mit.edu	37	14	19377698	19377698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:19377698G>T	ENST00000550708.1	+	1	177	c.105G>T	c.(103-105)gaG>gaT	p.E35D		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTGTGAGTGGACAATTC	0.433																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(103-105)gaG>gaT		olfactory receptor, family 11, subfamily H, member 12							67.0	69.0	68.0					14																	19377698		2199	4296	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377698G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.105G>T	14.37:g.19377698G>T	ENSP00000449002:p.Glu35Asp						p.E35D	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	177	+	all_cancers(95;0.00108)		35						Missense_Mutation	SNP	ENST00000550708.1	37	c.105G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.722355	0.00700	.	.	ENSG00000257115	ENST00000550708	T	0.01076	5.37	.	.	.	.	1.395380	0.05116	N	0.489793	T	0.00695	0.0023	N	0.03891	-0.335	0.22489	N	0.999053	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	8	0.11182	T	0.66	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	35	B2RN74	O11HC_HUMAN	D	35	ENSP00000449002:E35D	ENSP00000449002:E35D	E	+	3	2	CR383656.1	18447698	0.000000	0.05858	0.259000	0.24435	0.078000	0.17371	-3.102000	0.00603	0.413000	0.25759	0.064000	0.15345	GAG		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		12	74	1	0	9.31168e-06	1	1.03023e-05	12	74				
TRAV6	6956	broad.mit.edu	37	14	22237191	22237191	+	RNA	SNP	C	C	A	rs368276387		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:22237191C>A	ENST00000390428.3	+	0	275									T cell receptor alpha variable 6																		GCTACTCATACGTGAAAATGA	0.448																																						ENST00000390428.3																			0																				78.0	78.0	78.0					14																	22237191		1916	4130	6046			6956							g.chr14:22237191C>A	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22237191C>A														0	275	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.448	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		16	65	1	0	6.72482e-11	1	7.8289e-11	16	65				
TRHDE	29953	broad.mit.edu	37	12	72969048	72969048	+	Silent	SNP	A	A	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:72969048A>C	ENST00000261180.4	+	11	2106	c.2010A>C	c.(2008-2010)atA>atC	p.I670I	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	670					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCACAGAATAACTTATTTGG	0.338																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2008-2010)atA>atC		thyrotropin-releasing hormone degrading enzyme							73.0	73.0	73.0					12																	72969048		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969048A>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2010A>C	12.37:g.72969048A>C						TRHDE_ENST00000549138.1_3'UTR	p.I670I	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			11	2106	+			670					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.2010A>C	CCDS9004.1																																																																																				0.338	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		5	36	0	0	0	1	0	5	36				
CNTNAP1	8506	broad.mit.edu	37	17	40844735	40844735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:40844735G>A	ENST00000264638.4	+	17	2966	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	917	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCCCTCTATGTGGGTAAGCA	0.602																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2749-2751)Gtg>Atg		contactin associated protein 1							50.0	51.0	51.0					17																	40844735		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40844735G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2749G>A	17.37:g.40844735G>A	ENSP00000264638:p.Val917Met					CTD-3193K9.3_ENST00000592440.1_RNA	p.V917M	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	17	2966	+		Breast(137;0.000143)	917			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2749G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296967	0.81025	.	.	ENSG00000108797	ENST00000264638	T	0.80304	-1.36	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000008	D	0.90079	0.6901	M	0.74467	2.265	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.90495	0.4470	10	0.87932	D	0	.	19.815	0.96564	0.0:0.0:1.0:0.0	.	917	P78357	CNTP1_HUMAN	M	917	ENSP00000264638:V917M	ENSP00000264638:V917M	V	+	1	0	CNTNAP1	38098261	1.000000	0.71417	0.717000	0.30585	0.494000	0.33585	9.847000	0.99503	2.681000	0.91329	0.561000	0.74099	GTG		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		18	22	0	0	0	1	0	18	22				
CLIC4	25932	broad.mit.edu	37	1	25167425	25167425	+	Silent	SNP	G	G	A	rs182652695		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:25167425G>A	ENST00000374379.4	+	6	956	c.759G>A	c.(757-759)aaG>aaA	p.K253K		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	253					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GACTCACCAAGTAAAATCGCG	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20394	0.0		0.001	False		,,,				2504	0.0					ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(757-759)aaG>aaA		chloride intracellular channel 4		G		0,4406		0,0,2203	102.0	96.0	98.0		759	3.8	1.0	1		98	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CLIC4	NM_013943.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		253/254	25167425	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25167425G>A	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.759G>A	1.37:g.25167425G>A							p.K253K	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	6	956	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	253					Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	c.759G>A	CCDS256.1																																																																																				0.408	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		9	70	0	0	0	1	0	9	70				
FGG	2266	broad.mit.edu	37	4	155528120	155528120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:155528120G>A	ENST00000336098.3	-	8	904	c.866C>T	c.(865-867)gCc>gTc	p.A289V	FGG_ENST00000404648.3_Missense_Mutation_p.A289V|FGG_ENST00000407946.1_Missense_Mutation_p.A297V|FGG_ENST00000405164.1_Missense_Mutation_p.A297V	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	289	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTGAACATGGCATAGTCTGC	0.493																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(865-867)gCc>gTc		fibrinogen gamma chain	Sucralfate(DB00364)						134.0	121.0	125.0					4																	155528120		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528120G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.866C>T	4.37:g.155528120G>A	ENSP00000336829:p.Ala289Val					FGG_ENST00000407946.1_Missense_Mutation_p.A297V|FGG_ENST00000405164.1_Missense_Mutation_p.A297V|FGG_ENST00000336098.3_Missense_Mutation_p.A289V	p.A289V	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1105	-	all_hematologic(180;0.215)	Renal(120;0.0458)	289			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.866C>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398347	0.83120	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.91	5.91	0.95273	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.324766	0.37530	N	0.002045	D	0.97269	0.9107	M	0.72576	2.205	0.53688	D	0.999979	D;P;P;P;P	0.56035	0.974;0.926;0.937;0.937;0.87	B;B;P;P;B	0.48677	0.283;0.295;0.586;0.505;0.372	D	0.97124	0.9813	10	0.54805	T	0.06	.	20.3057	0.98631	0.0:0.0:1.0:0.0	.	186;297;289;297;289	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	V	289;297;289;297	ENSP00000384860:A289V;ENSP00000384101:A297V;ENSP00000336829:A289V;ENSP00000384552:A297V	ENSP00000336829:A289V	A	-	2	0	FGG	155747570	1.000000	0.71417	0.964000	0.40570	0.877000	0.50540	4.970000	0.63742	2.791000	0.96007	0.655000	0.94253	GCC		0.493	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		8	54	0	0	0	1	0	8	54				
FBXO8	26269	broad.mit.edu	37	4	175183944	175183944	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:175183944G>A	ENST00000393674.2	-	2	1162	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FBXO8_ENST00000503293.1_Silent_p.D59D	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	100	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CATTCGCAAGGTCCTGCCAAA	0.393																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(298-300)gaC>gaT		F-box protein 8							101.0	88.0	93.0					4																	175183944		2203	4300	6503	SO:0001819	synonymous_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175183944G>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.300C>T	4.37:g.175183944G>A						FBXO8_ENST00000503293.1_Silent_p.D59D	p.D100D	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	2	1162	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	100			F-box.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.300C>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379162	0.24944	.	.	ENSG00000164117	ENST00000296517	.	.	.	5.63	2.88	0.33553	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56908	-0.7901	5	0.45353	T	0.12	.	8.7721	0.34740	0.3814:0.0:0.6186:0.0	.	.	.	.	I	14	.	ENSP00000296517:T14I	T	-	2	0	FBXO8	175420519	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	1.220000	0.32491	0.273000	0.22049	0.467000	0.42956	ACC		0.393	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		4	30	0	0	0	1	0	4	30				
ZNF347	84671	broad.mit.edu	37	19	53645507	53645507	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:53645507G>C	ENST00000334197.7	-	5	642	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V	ZNF347_ENST00000452676.2_Missense_Mutation_p.L193V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.L193V	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTTCAGGCAGATGTGACTGA	0.368																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(577-579)Ctg>Gtg		zinc finger protein 347							131.0	123.0	126.0					19																	53645507		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645507G>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.574C>G	19.37:g.53645507G>C	ENSP00000334146:p.Leu192Val					ZNF347_ENST00000334197.7_Missense_Mutation_p.L192V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.L193V	p.L193V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1003	-			192					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.577C>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586628	0.28268	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.08102	3.14;3.13	2.42	-1.58	0.08479	.	.	.	.	.	T	0.15176	0.0366	L	0.39467	1.215	0.09310	N	1	D;D	0.71674	0.998;0.964	D;B	0.83275	0.996;0.428	T	0.15607	-1.0431	9	0.72032	D	0.01	.	4.8074	0.13326	0.2304:0.1762:0.5934:0.0	.	193;192	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	192;193	ENSP00000334146:L192V;ENSP00000405218:L193V	ENSP00000334146:L192V	L	-	1	2	ZNF347	58337319	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	-0.004000	0.12878	-0.398000	0.07679	-0.165000	0.13383	CTG		0.368	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	72	0	0	0	1	0	11	72				
ASCC3	10973	broad.mit.edu	37	6	101215068	101215068	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr6:101215068T>A	ENST00000369162.2	-	9	1893	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	ASCC3_ENST00000522650.1_Missense_Mutation_p.I517F	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	517	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTTGGCGAATTTCATGCAAG	0.348																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1549-1551)Att>Ttt		activating signal cointegrator 1 complex subunit 3							167.0	152.0	157.0					6																	101215068		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101215068T>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1549A>T	6.37:g.101215068T>A	ENSP00000358159:p.Ile517Phe					ASCC3_ENST00000522650.1_Missense_Mutation_p.I517F	p.I517F	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	9	1893	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	517			Helicase ATP-binding 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1549A>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086255	0.76642	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.16597	2.33;2.33	5.08	5.08	0.68730	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.061993	0.64402	D	0.000005	T	0.24928	0.0605	L	0.43152	1.355	0.80722	D	1	B;D	0.76494	0.005;0.999	B;D	0.76071	0.023;0.987	T	0.02161	-1.1203	10	0.72032	D	0.01	.	15.185	0.72993	0.0:0.0:0.0:1.0	.	517;517	E7EW23;Q8N3C0	.;HELC1_HUMAN	F	517	ENSP00000358159:I517F;ENSP00000430769:I517F	ENSP00000358159:I517F	I	-	1	0	ASCC3	101321789	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.831000	0.62752	2.060000	0.61445	0.472000	0.43445	ATT		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		26	51	0	0	0	1	0	26	51				
TAX1BP1	8887	broad.mit.edu	37	7	27856133	27856133	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:27856133A>G	ENST00000396319.2	+	14	2018	c.1930A>G	c.(1930-1932)Aca>Gca	p.T644A	TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T668A|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	644					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATCTCAGGAAACAAGAGGTTA	0.343																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1930-1932)Aca>Gca		Tax1 (human T-cell leukemia virus type I) binding protein 1							131.0	124.0	127.0					7																	27856133		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856133A>G	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1930A>G	7.37:g.27856133A>G	ENSP00000379612:p.Thr644Ala					TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T668A|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron	p.T644A	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	2018	+			644					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1930A>G	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844664	0.32606	.	.	ENSG00000106052	ENST00000409980;ENST00000396319	T;T	0.12039	2.79;2.72	5.65	5.65	0.86999	.	0.387026	0.21667	N	0.070935	T	0.15565	0.0375	L	0.49350	1.555	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04307	-1.0961	9	.	.	.	-0.1486	15.8828	0.79216	1.0:0.0:0.0:0.0	.	644	Q86VP1	TAXB1_HUMAN	A	668;644	ENSP00000386515:T668A;ENSP00000379612:T644A	.	T	+	1	0	TAX1BP1	27822658	0.988000	0.35896	0.994000	0.49952	0.956000	0.61745	2.909000	0.48758	2.152000	0.67230	0.533000	0.62120	ACA		0.343	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		25	127	0	0	0	1	0	25	127				
BMP3	651	broad.mit.edu	37	4	81967328	81967328	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:81967328G>A	ENST00000282701.2	+	2	1073	c.753G>A	c.(751-753)gaG>gaA	p.E251E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	251					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTTCTGAGCCAGAAAGTG	0.483																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(751-753)gaG>gaA		bone morphogenetic protein 3							94.0	94.0	94.0					4																	81967328		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967328G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.753G>A	4.37:g.81967328G>A							p.E251E	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1073	+			251					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.753G>A	CCDS3588.1																																																																																				0.483	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			22	77	0	0	0	1	0	22	77				
CPT1A	1374	broad.mit.edu	37	11	68582883	68582883	+	Silent	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:68582883G>A	ENST00000265641.5	-	2	214	c.60C>T	c.(58-60)gaC>gaT	p.D20D	CPT1A_ENST00000376618.2_Silent_p.D20D|CPT1A_ENST00000540367.1_Silent_p.D20D|CPT1A_ENST00000539743.1_Silent_p.D20D	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	20					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAGCCGCAGGTCAATCCCGT	0.463																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)gaC>gaT		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						81.0	72.0	75.0					11																	68582883		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582883G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.60C>T	11.37:g.68582883G>A						CPT1A_ENST00000540367.1_Silent_p.D20D|CPT1A_ENST00000539743.1_Silent_p.D20D|CPT1A_ENST00000376618.2_Silent_p.D20D	p.D20D	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	214	-	Esophageal squamous(3;3.28e-14)		20					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.60C>T	CCDS8185.1																																																																																				0.463	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		5	72	0	0	0	1	0	5	72				
XRN2	22803	broad.mit.edu	37	20	21306917	21306917	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:21306917C>T	ENST00000377191.3	+	2	171	c.76C>T	c.(76-78)Cca>Tca	p.P26S	XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	26					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCCTCATAGCCAAAAGAATG	0.333																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.e2-1		5'-3' exoribonuclease 2							94.0	89.0	91.0					20																	21306917		2203	4300	6503	SO:0001630	splice_region_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21306917C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.76-1C>T	20.37:g.21306917C>T						XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	p.P26_splice	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			2	171	+			26					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Splice_Site	SNP	ENST00000377191.3	37	c.75_splice	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301630	0.40694	.	.	ENSG00000088930	ENST00000377191	T	0.31247	1.5	5.62	4.68	0.58851	Putative 5-3 exonuclease (1);	0.215245	0.48286	N	0.000197	T	0.28200	0.0696	L	0.52206	1.635	0.80722	D	1	B	0.18968	0.032	B	0.24394	0.053	T	0.05484	-1.0882	9	.	.	.	-3.8225	11.1709	0.48571	0.0:0.792:0.1366:0.0715	.	26	Q9H0D6	XRN2_HUMAN	S	26	ENSP00000366396:P26S	.	P	+	1	0	XRN2	21254917	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.652000	0.46682	1.382000	0.46385	-0.145000	0.13849	CCA		0.333	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	Missense_Mutation	5	46	0	0	0	1	0	5	46				
TG	7038	broad.mit.edu	37	8	134128920	134128920	+	Missense_Mutation	SNP	G	G	A	rs569252473		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:134128920G>A	ENST00000220616.4	+	45	7862	c.7822G>A	c.(7822-7824)Gtc>Atc	p.V2608I	TG_ENST00000519543.1_Missense_Mutation_p.V741I|TG_ENST00000377869.1_Missense_Mutation_p.V2551I|TG_ENST00000542445.1_Missense_Mutation_p.V978I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2608					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGAGGAAACGTCTTCATGTA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19853	0.001		0.0	False		,,,				2504	0.0					ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7822-7824)Gtc>Atc		thyroglobulin							116.0	96.0	103.0					8																	134128920		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134128920G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7822G>A	8.37:g.134128920G>A	ENSP00000220616:p.Val2608Ile					TG_ENST00000377869.1_Missense_Mutation_p.V2551I|TG_ENST00000542445.1_Missense_Mutation_p.V978I|TG_ENST00000519543.1_Missense_Mutation_p.V741I	p.V2608I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	45	7862	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2608					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7822G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.846973|2.846973	0.51164|0.51164	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000521107	.|T;T;T;T;T	.|0.61980	.|0.06;0.06;0.06;0.06;0.65	5.6|5.6	2.8|2.8	0.32819|0.32819	.|Carboxylesterase, type B (1);	.|0.544069	.|0.18102	.|N	.|0.151660	T|T	0.76097|0.76097	0.3940|0.3940	M|M	0.83223|0.83223	2.63|2.63	0.25882|0.25882	N|N	0.98357|0.98357	.|D;P;D	.|0.76494	.|0.999;0.863;0.985	.|D;B;P	.|0.66602	.|0.945;0.239;0.636	T|T	0.65602|0.65602	-0.6128|-0.6128	5|10	.|0.72032	.|D	.|0.01	.|.	8.9001|8.9001	0.35490|0.35490	0.2271:0.0:0.7729:0.0|0.2271:0.0:0.7729:0.0	.|.	.|741;978;2608	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	H|I	1063|2551;1414;2608;978;741;57	.|ENSP00000367100:V2551I;ENSP00000220616:V2608I;ENSP00000441693:V978I;ENSP00000430430:V741I;ENSP00000430161:V57I	.|ENSP00000220616:V2608I	R|V	+|+	2|1	0|0	TG|TG	134198102|134198102	0.993000|0.993000	0.37304|0.37304	0.897000|0.897000	0.35233|0.35233	0.197000|0.197000	0.23852|0.23852	2.205000|2.205000	0.42770|0.42770	1.373000|1.373000	0.46208|0.46208	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	80	0	0	0	1	0	11	80				
NPHS1	4868	broad.mit.edu	37	19	36341934	36341934	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:36341934G>A	ENST00000378910.5	-	4	454	c.455C>T	c.(454-456)gCt>gTt	p.A152V	NPHS1_ENST00000353632.6_Missense_Mutation_p.A152V|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	152	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTGCCCAGCTACCCAGGT	0.602																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(454-456)gCt>gTt		nephrosis 1, congenital, Finnish type (nephrin)							92.0	68.0	76.0					19																	36341934		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36341934G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.455C>T	19.37:g.36341934G>A	ENSP00000368190:p.Ala152Val					NPHS1_ENST00000353632.6_Missense_Mutation_p.A152V	p.A152V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	454	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		152			Ig-like C2-type 2.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.455C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088287	0.94100	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86030	-2.06;-2.06	5.99	5.99	0.97316	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.191370	0.45126	D	0.000396	D	0.89410	0.6707	L	0.54323	1.7	0.50039	D	0.999846	D	0.71674	0.998	D	0.71656	0.974	D	0.85335	0.1092	10	0.17832	T	0.49	-18.3365	16.0374	0.80640	0.0:0.0:1.0:0.0	.	152	O60500	NPHN_HUMAN	V	152	ENSP00000368190:A152V;ENSP00000343634:A152V	ENSP00000343634:A152V	A	-	2	0	NPHS1	41033774	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.708000	0.68377	2.857000	0.98124	0.650000	0.86243	GCT		0.602	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			3	42	0	0	0	1	0	3	42				
SCRN3	79634	broad.mit.edu	37	2	175292538	175292549	+	In_Frame_Del	DEL	AGAAAATTGTTA	AGAAAATTGTTA	-	rs371421198|rs187311264		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:175292538_175292549delAGAAAATTGTTA	ENST00000272732.6	+	8	1272_1283	c.1190_1201delAGAAAATTGTTA	c.(1189-1203)gagaaaattgttaat>gat	p.397_401EKIVN>D	SCRN3_ENST00000409673.3_In_Frame_Del_p.390_394EKIVN>D|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	397							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTTGATGTGGAGAAAATTGTTAATCTCTTTCC	0.321																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(1189-1203)gat>g		secernin 3																																				SO:0001651	inframe_deletion	79634				proteolysis		dipeptidase activity	g.chr2:175292538_175292549delAGAAAATTGTTA	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1190_1201delAGAAAATTGTTA	2.37:g.175292538_175292549delAGAAAATTGTTA	ENSP00000272732:p.Glu397_Asn401delinsAsp					SCRN3_ENST00000409673.3_In_Frame_Del_p.EKIVN390del|SCRN3_ENST00000548921.1_3'UTR	p.EKIVN397del	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		8	1272_1283	+			397					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	In_Frame_Del	DEL	ENST00000272732.6	37	c.1190_1201delAGAAAATTGTTA	CCDS2258.1																																																																																				0.321	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		8	30						8	30	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70983904	70983924	+	In_Frame_Del	DEL	GAGTAGGATCCGATACTGCTC	GAGTAGGATCCGATACTGCTC	-	rs371952914		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:70983904_70983924delGAGTAGGATCCGATACTGCTC	ENST00000261266.5	-	6	1245_1265	c.1216_1236delGAGCAGTATCGGATCCTACTC	c.(1216-1236)gagcagtatcggatcctactcdel	p.EQYRILL406del	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_In_Frame_Del_p.EQYRILL623del|PTPRB_ENST00000538708.1_In_Frame_Del_p.EQYRILL406del|PTPRB_ENST00000334414.6_In_Frame_Del_p.EQYRILL624del|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_In_Frame_Del_p.EQYRILL624del|PTPRB_ENST00000451516.2_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	406	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I410I(2)|p.R409R(2)|p.I628I(1)|p.R627R(1)|p.L412P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATCATTGAAGAGTAGGATCCGATACTGCTCCCAGTCTCCA	0.507											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334414.6																			7	Substitution - coding silent(6)|Substitution - Missense(1)	p.I410I(2)|p.R409R(2)|p.I628I(1)|p.R627R(1)|p.L412P(1)	lung(7)	breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1870-1890)del		protein tyrosine phosphatase, receptor type, B																																				SO:0001651	inframe_deletion	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983904_70983924delGAGTAGGATCCGATACTGCTC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1216_1236delGAGCAGTATCGGATCCTACTC	12.37:g.70983904_70983924delGAGTAGGATCCGATACTGCTC	ENSP00000261266:p.Glu406_Leu412del		OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_ENST00000551525.1_In_Frame_Del_p.EQYRILL623del|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_In_Frame_Del_p.EQYRILL406del|PTPRB_ENST00000550358.1_In_Frame_Del_p.EQYRILL624del|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_In_Frame_Del_p.EQYRILL406del	p.EQYRILL624del	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		8	1914_1934	-	Renal(347;0.236)		406			Fibronectin type-III 7.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	In_Frame_Del	DEL	ENST00000261266.5	37	c.1870_1890delGAGCAGTATCGGATCCTACTC	CCDS44944.1																																																																																				0.507	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			15	73						15	73	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73467972	73467973	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:73467972_73467973insT	ENST00000326291.6	+	11	1711_1712	c.1373_1374insT	c.(1372-1377)catcaafs	p.Q459fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	459						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GAATTTCTCCATCAAAGTAAAT	0.351																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1372-1374)ccafs		progesterone immunomodulatory binding factor 1																																				SO:0001589	frameshift_variant	10464					centrosome		g.chr13:73467972_73467973insT	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1374dupT	13.37:g.73467973_73467973dupT	ENSP00000317144:p.Gln459fs						p.P458fs	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1711_1712	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	458					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Frame_Shift_Ins	INS	ENST00000326291.6	37	c.1373_1374insT	CCDS31991.1																																																																																				0.351	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		22	34						22	34	---	---	---	---
